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dbVar

Database of genomic structural variation

esv3889864

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:12,900

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: 532 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):116,851,201-116,866,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889864	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
esv3889864	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25567278	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25567279	deletion	HG00258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,495
essv25567280	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25567281	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25567282	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25567283	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25567284	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25567278	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567279	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567280	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567281	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567282	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567283	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567284	Remapped	Perfect	NC_000023.11:g.(11 6851201_116852701) _(116864600_116866 100)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	116,852,201 (-1000, +500)	116,865,100 (-500, +1000)
essv25567278	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567279	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567280	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567281	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567282	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567283	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)
essv25567284	Submitted genomic		NC_000023.10:g.(11 5985169_115986669) _(115998568_116000 068)del	GRCh37 (hg19)		NC_000023.10	ChrX	115,986,169 (-1000, +500)	115,999,068 (-500, +1000)

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.

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