Variant Details

Variant: esv3586035

Internal ID

6973554

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:51449473..51451783	hg38	UCSC Ensembl
Inner	chr1:51449474..51451783	hg38	UCSC Ensembl
Outer	chr1:51449473..51451784	hg38	UCSC Ensembl
	chr1:51915145..51917455	hg19	UCSC Ensembl
Inner	chr1:51915146..51917455	hg19	UCSC Ensembl
Outer	chr1:51915145..51917456	hg19	UCSC Ensembl

Cytoband

1p32.3

Allele length

Assembly	Allele length
hg38	2311
hg19	2311

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9929241, essv9929229, essv9929239, essv9929225, essv9929213, essv9929208, essv9929210, essv9929202, essv9929223, essv9929216, essv9929237, essv9929203, essv9929235, essv9929209, essv9929224, essv9929199, essv9929231, essv9929226, essv9929205, essv9929222, essv9929211, essv9929218, essv9929230, essv9929220, essv9929240, essv9929207, essv9929200, essv9929238, essv9929242, essv9929206, essv9929245, essv9929244, essv9929201, essv9929214, essv9929217, essv9929232, essv9929228, essv9929204, essv9929227, essv9929234, essv9929219, essv9929233, essv9929247, essv9929246, essv9929236, essv9929221, essv9929215, essv9929212, essv9929243

Samples

HG02890, HG02496, NA19466, NA19399, HG02852, HG03298, NA19777, HG02888, HG03572, HG03086, NA19315, HG03499, HG02325, HG02549, HG02645, HG02816, HG03520, HG03380, HG03583, HG03088, HG02582, HG03547, HG02307, NA19776, HG03123, HG03085, NA19449, HG02817, NA19099, HG02666, NA18523, HG01956, HG03567, HG02330, HG03028, HG01190, HG02501, HG00638, NA19835, HG03469, NA19467, HG01342, HG03157, HG03063, NA19102, HG01914, NA19129, HG03118, HG02643

Known Genes

EPS15

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3586035

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	49
Observed Complex	0
Frequency	n/a