esv3619128

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:3,141

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: 506 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):144,492,551-144,495,701

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3619128	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
esv3619128	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13369027	deletion	SAMN00004641	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942
essv13369028	deletion	SAMN01091036	Sequencing	Read depth and paired-end mapping	Heterozygous	2,750
essv13369029	deletion	SAMN00801372	Sequencing	Read depth and paired-end mapping	Heterozygous	2,783
essv13369030	deletion	SAMN00001552	Sequencing	Read depth and paired-end mapping	Heterozygous	2,861
essv13369031	deletion	SAMN00801422	Sequencing	Read depth and paired-end mapping	Heterozygous	2,797
essv13369032	deletion	SAMN00801646	Sequencing	Read depth and paired-end mapping	Heterozygous	2,822
essv13369033	deletion	SAMN00000531	Sequencing	Read depth and paired-end mapping	Heterozygous	2,564
essv13369034	deletion	SAMN00001225	Sequencing	Read depth and paired-end mapping	Heterozygous	2,840
essv13369035	deletion	SAMN00001317	Sequencing	Read depth and paired-end mapping	Heterozygous	2,796
essv13369036	deletion	SAMN00007934	Sequencing	Read depth and paired-end mapping	Heterozygous	2,480

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13369027	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369028	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369029	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369030	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369031	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369032	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369033	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369034	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369035	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369036	Remapped	Perfect	NC_000008.11:g.(14 4492551_144492561) _(144495691_144495 701)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	144,492,556 (-5, +5)	144,495,696 (-5, +5)
essv13369027	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369028	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369029	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369030	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369031	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369032	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369033	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369034	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369035	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)
essv13369036	Submitted genomic		NC_000008.10:g.(14 5717934_145717944) _(145721074_145721 084)del	GRCh37 (hg19)		NC_000008.10	Chr8	145,717,939 (-5, +5)	145,721,079 (-5, +5)

dbVar

Database of genomic structural variation

esv3619128

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.