Variant Details

Variant: esv3588318

Internal ID

6975734

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:191228403..191231899	hg38	UCSC Ensembl
Inner	chr1:191228553..191231749	hg38	UCSC Ensembl
Outer	chr1:191228253..191232049	hg38	UCSC Ensembl
	chr1:191197533..191201029	hg19	UCSC Ensembl
Inner	chr1:191197683..191200879	hg19	UCSC Ensembl
Outer	chr1:191197383..191201179	hg19	UCSC Ensembl

Cytoband

1q31.2

Allele length

Assembly	Allele length
hg38	3497
hg19	3497

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10233387, essv10233395, essv10233420, essv10233397, essv10233378, essv10233414, essv10233382, essv10233419, essv10233388, essv10233380, essv10233411, essv10233376, essv10233391, essv10233407, essv10233404, essv10233393, essv10233396, essv10233394, essv10233400, essv10233413, essv10233403, essv10233412, essv10233408, essv10233383, essv10233375, essv10233415, essv10233390, essv10233410, essv10233418, essv10233401, essv10233406, essv10233389, essv10233374, essv10233402, essv10233385, essv10233379, essv10233386, essv10233409, essv10233417, essv10233384, essv10233392, essv10233405, essv10233381, essv10233398, essv10233377, essv10233416, essv10233399

Samples

HG01402, HG01348, HG02150, HG01970, HG01461, HG01140, HG01953, HG01351, HG01177, HG01168, HG01372, HG01393, HG01308, HG01892, HG02104, HG01942, HG01565, HG01124, NA20314, HG01077, HG01092, HG00740, HG01447, HG01392, HG01197, HG01241, NA19761, HG01286, HG01444, HG01954, HG01980, NA19735, NA19749, HG02304, HG01272, HG01357, HG01494, HG01205, HG01137, HG01342, HG01991, HG01861, HG01577, HG01302, HG01377, HG01464, HG01566

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588318

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a