esv3877641

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:27
Validation:Not tested
Clinical Assertions: No
Region Size:17,460

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 191 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):60,521,550-60,539,024

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3877641	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
esv3877641	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24021630	deletion	HG00100	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,549
essv24021631	deletion	HG00130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,127
essv24021632	deletion	HG00137	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,006
essv24021633	deletion	HG00234	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,309
essv24021634	deletion	HG00265	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv24021635	deletion	HG00319	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,162
essv24021636	deletion	HG01121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,318
essv24021637	deletion	HG01390	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,420
essv24021638	deletion	HG01437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,571
essv24021639	deletion	HG01474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,773
essv24021640	deletion	HG01510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,490
essv24021641	deletion	HG01512	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,815
essv24021642	deletion	HG01684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,200
essv24021643	deletion	HG01791	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,704
essv24021644	deletion	HG02219	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,963
essv24021645	deletion	HG02304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv24021646	deletion	HG03863	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,227
essv24021647	deletion	HG03874	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,467
essv24021648	deletion	NA19746	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,725
essv24021649	deletion	NA19914	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,767
essv24021650	deletion	NA20520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv24021651	deletion	NA20534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,666
essv24021652	deletion	NA20538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,640
essv24021653	deletion	NA20582	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,870
essv24021654	deletion	NA20765	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv24021655	deletion	NA20785	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,720
essv24021656	deletion	NA20812	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,680

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24021630	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021631	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021632	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021633	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021634	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021635	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021636	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021637	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021638	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021639	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021640	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021641	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021642	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021643	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021644	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021645	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021646	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021647	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021648	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021649	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021650	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021651	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021652	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021653	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021654	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021655	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021656	Remapped	Perfect	NC_000016.10:g.(60 521550_60521565)_( 60539009_60539024) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	60,521,557 (-7, +8)	60,539,016 (-7, +8)
essv24021630	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021631	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021632	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021633	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021634	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021635	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021636	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021637	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021638	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021639	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021640	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021641	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021642	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021643	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021644	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021645	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021646	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021647	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021648	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021649	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021650	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021651	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021652	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021653	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021654	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021655	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)
essv24021656	Submitted genomic		NC_000016.9:g.(605 55454_60555469)_(6 0572913_60572928)d el	GRCh37 (hg19)		NC_000016.9	Chr16	60,555,461 (-7, +8)	60,572,920 (-7, +8)

dbVar

Database of genomic structural variation

esv3877641

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.