Variant Details

Variant: esv3594614

Internal ID

6981934

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:230841203..230842187	hg38	UCSC Ensembl
Inner	chr2:230841391..230842137	hg38	UCSC Ensembl
Outer	chr2:230841019..230842371	hg38	UCSC Ensembl
	chr2:231705918..231706902	hg19	UCSC Ensembl
Inner	chr2:231706106..231706852	hg19	UCSC Ensembl
Outer	chr2:231705734..231707086	hg19	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	985
hg19	985

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10875249, essv10875234, essv10875271, essv10875248, essv10875263, essv10875258, essv10875247, essv10875267, essv10875255, essv10875260, essv10875273, essv10875240, essv10875265, essv10875256, essv10875270, essv10875243, essv10875268, essv10875239, essv10875275, essv10875252, essv10875233, essv10875244, essv10875261, essv10875242, essv10875251, essv10875264, essv10875231, essv10875238, essv10875245, essv10875241, essv10875274, essv10875257, essv10875232, essv10875262, essv10875250, essv10875259, essv10875269, essv10875236, essv10875253, essv10875254, essv10875237, essv10875235, essv10875230, essv10875266, essv10875276, essv10875272, essv10875246

Samples

NA19701, NA19028, NA19700, HG03378, HG03175, HG03057, NA18917, HG03130, HG03521, HG03518, NA20356, HG02895, NA19446, NA19197, HG02054, HG02922, HG02111, HG02489, HG02143, NA20278, NA19235, NA19207, NA19172, HG03380, NA18520, HG02946, HG03073, NA19184, HG02449, NA19391, HG02554, NA19982, HG01989, NA19461, NA19452, HG02484, NA19108, NA19019, NA19331, HG03108, NA19323, HG01577, NA20348, NA18873, HG02947, HG03439, HG03166

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3594614

Frequency

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