esv3850890

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:17
Validation:Not tested
Clinical Assertions: No
Region Size:15,885

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: 367 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):111,179,688-111,195,949

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850890	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
esv3850890	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20838297	deletion	HG01260	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv20838298	deletion	HG01372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363
essv20838299	deletion	HG01491	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,598
essv20838300	deletion	HG01771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,568
essv20838301	deletion	HG02256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624
essv20838302	deletion	HG02568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,026
essv20838303	deletion	HG02574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv20838304	deletion	HG02808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,842
essv20838305	deletion	HG02852	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv20838306	deletion	HG02882	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,053
essv20838307	deletion	HG02895	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,924
essv20838308	deletion	HG03054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,343
essv20838309	deletion	HG03240	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,999
essv20838310	deletion	NA11995	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,073
essv20838311	deletion	NA12286	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,691
essv20838312	deletion	NA19041	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,032
essv20838313	deletion	NA19225	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,045

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838297	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838298	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838299	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838300	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838301	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838302	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838303	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838304	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838305	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838306	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838307	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838308	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838309	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838310	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838311	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838312	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838313	Remapped	Perfect	NC_000007.14:g.(11 1179688_111179895) _(111195779_111195 949)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,179,895 (-207, +0)	111,195,779 (-0, +170)
essv20838297	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838298	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838299	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838300	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838301	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838302	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838303	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838304	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838305	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838306	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838307	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838308	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838309	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838310	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838311	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838312	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)
essv20838313	Submitted genomic		NC_000007.13:g.(11 0819744_110819951) _(110835835_110836 005)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,819,951 (-207, +0)	110,835,835 (-0, +170)

dbVar

Database of genomic structural variation

esv3850890

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.