esv3591237

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:10
Validation:Not tested
Clinical Assertions: No
Region Size:27,918

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 158 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):72,021,290-72,050,207

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3591237	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
esv3591237	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10540254	deletion	SAMN00006516	Sequencing	Read depth and paired-end mapping	Heterozygous	2,414
essv10540255	deletion	SAMN00006556	Sequencing	Read depth and paired-end mapping	Heterozygous	2,702
essv10540256	deletion	SAMN00249899	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv10540257	deletion	SAMN00249902	Sequencing	Read depth and paired-end mapping	Heterozygous	2,688
essv10540258	deletion	SAMN00249915	Sequencing	Read depth and paired-end mapping	Heterozygous	2,760
essv10540259	deletion	SAMN00249855	Sequencing	Read depth and paired-end mapping	Heterozygous	2,533
essv10540260	deletion	SAMN00249930	Sequencing	Read depth and paired-end mapping	Heterozygous	2,724
essv10540261	deletion	SAMN00249937	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv10540262	deletion	SAMN00255156	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv10540263	deletion	SAMN00000936	Sequencing	Read depth and paired-end mapping	Heterozygous	2,132

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10540254	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540255	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540256	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540257	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540258	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540259	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540260	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540261	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540262	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540263	Remapped	Perfect	NC_000002.12:g.(72 021290_72021790)_( 72049707_72050207) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	72,021,790 (-500, +0)	72,049,707 (-0, +500)
essv10540254	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540255	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540256	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540257	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540258	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540259	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540260	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540261	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540262	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)
essv10540263	Submitted genomic		NC_000002.11:g.(72 248420_72248920)_( 72276837_72277337) del	GRCh37 (hg19)		NC_000002.11	Chr2	72,248,920 (-500, +0)	72,276,837 (-0, +500)

dbVar

Database of genomic structural variation

esv3591237

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.