esv3850928

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

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: 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
esv3850928	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,510,674 (-9, +10)	111,560,662 (-9, +10)
esv3850928	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
essv20838895	deletion	HG00186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,391
essv20838896	deletion	HG02407	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv20838897	deletion	HG03886	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,408
essv20838898	deletion	HG04056	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,093
essv20838899	deletion	HG04227	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,518
essv20838900	deletion	NA18629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095
essv20838901	deletion	NA18949	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,306
essv20838902	deletion	NA19067	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,784
essv20838903	deletion	NA20762	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605
essv20838904	deletion	NA20849	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,504
essv20838905	deletion	NA20854	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,362

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838895	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)
essv20838896	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)
essv20838897	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)
essv20838898	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)
essv20838899	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)
essv20838900	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)
essv20838901	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)
essv20838902	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)
essv20838903	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)
essv20838904	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)
essv20838905	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)
essv20838895	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)
essv20838896	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)
essv20838897	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)
essv20838898	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)
essv20838899	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)
essv20838900	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)
essv20838901	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)
essv20838902	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)
essv20838903	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)
essv20838904	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)
essv20838905	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

esv3850928

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.