esv3850127

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:12
Validation:Not tested
Clinical Assertions: No
Region Size:19,974

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: 247 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):80,630,524-80,651,032

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850127	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
esv3850127	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20737016	deletion	HG00956	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,379
essv20737017	deletion	HG01029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,360
essv20737018	deletion	HG01794	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,341
essv20737019	deletion	HG01807	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,385
essv20737020	deletion	HG01812	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv20737021	deletion	HG02166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,466
essv20737022	deletion	HG02186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,373
essv20737023	deletion	HG02367	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,628
essv20737024	deletion	HG02386	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,602
essv20737025	deletion	HG02391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,635
essv20737026	deletion	HG02396	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,614
essv20737027	deletion	HG02398	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,696

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20737016	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737017	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737018	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737019	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737020	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737021	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737022	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737023	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737024	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737025	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737026	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737027	Remapped	Perfect	NC_000007.14:g.(80 630524_80630779)_( 80650752_80651032) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	80,630,779 (-255, +0)	80,650,752 (-0, +280)
essv20737016	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737017	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737018	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737019	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737020	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737021	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737022	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737023	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737024	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737025	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737026	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)
essv20737027	Submitted genomic		NC_000007.13:g.(80 259840_80260095)_( 80280068_80280348) del	GRCh37 (hg19)		NC_000007.13	Chr7	80,260,095 (-255, +0)	80,280,068 (-0, +280)

dbVar

Database of genomic structural variation

esv3850127

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.