esv3614594

Organism: Homo sapiens

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

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:49,989

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: 1059 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):111,510,665-111,560,672

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3614594	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
esv3614594	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12929189	deletion	SAMN00016977	Sequencing	Read depth and paired-end mapping	Heterozygous	2,562
essv12929190	deletion	SAMN00263066	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831
essv12929191	deletion	SAMN01090978	Sequencing	Read depth and paired-end mapping	Heterozygous	2,789
essv12929192	deletion	SAMN01761570	Sequencing	Read depth and paired-end mapping	Heterozygous	2,245
essv12929193	deletion	SAMN01761519	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv12929194	deletion	SAMN00000938	Sequencing	Read depth and paired-end mapping	Heterozygous	2,272
essv12929195	deletion	SAMN00001640	Sequencing	Read depth and paired-end mapping	Heterozygous	2,710
essv12929196	deletion	SAMN00000527	Sequencing	Read depth and paired-end mapping	Heterozygous	2,928
essv12929197	deletion	SAMN00001281	Sequencing	Read depth and paired-end mapping	Heterozygous	2,758
essv12929198	deletion	SAMN00007883	Sequencing	Read depth and paired-end mapping	Heterozygous	2,933
essv12929199	deletion	SAMN00007888	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12929189	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929190	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929191	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929192	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929193	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929194	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929195	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929196	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929197	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929198	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929199	Remapped	Perfect	NC_000007.14:g.(11 1510665_111510684) _(111560653_111560 672)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
essv12929189	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929190	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929191	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929192	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929193	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929194	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929195	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929196	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929197	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929198	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)
essv12929199	Submitted genomic		NC_000007.13:g.(11 1150721_111150740) _(111200709_111200 728)del	GRCh37 (hg19)		NC_000007.13	Chr7	111,150,730 (-9, +10)	111,200,718 (-9, +10)

dbVar

Database of genomic structural variation

esv3614594

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.