Variant Details

Variant: esv3588924

Internal ID

6976340

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:221498886..221501378	hg38	UCSC Ensembl
Inner	chr1:221498887..221501378	hg38	UCSC Ensembl
Outer	chr1:221498886..221501379	hg38	UCSC Ensembl
	chr1:221672228..221674720	hg19	UCSC Ensembl
Inner	chr1:221672229..221674720	hg19	UCSC Ensembl
Outer	chr1:221672228..221674721	hg19	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	2493
hg19	2493

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10299831, essv10299810, essv10299804, essv10299787, essv10299797, essv10299790, essv10299827, essv10299811, essv10299792, essv10299834, essv10299769, essv10299799, essv10299812, essv10299836, essv10299785, essv10299817, essv10299796, essv10299808, essv10299775, essv10299800, essv10299816, essv10299774, essv10299818, essv10299803, essv10299781, essv10299832, essv10299783, essv10299778, essv10299770, essv10299824, essv10299782, essv10299822, essv10299776, essv10299815, essv10299828, essv10299772, essv10299814, essv10299788, essv10299777, essv10299805, essv10299801, essv10299813, essv10299779, essv10299825, essv10299771, essv10299829, essv10299807, essv10299833, essv10299798, essv10299780, essv10299821, essv10299809, essv10299823, essv10299802, essv10299826, essv10299795, essv10299786, essv10299791, essv10299773, essv10299784, essv10299819, essv10299789, essv10299793, essv10299835, essv10299794, essv10299820, essv10299830, essv10299806

Samples

HG00626, HG00542, HG00536, HG02385, NA18947, HG00559, HG00524, NA18599, NA18641, HG00699, NA18596, NA18962, NA18627, NA18550, HG02016, HG02151, HG00689, HG00599, NA18558, NA18547, HG01840, NA18611, HG02395, HG00683, HG01849, HG02073, HG00419, HG02164, NA19007, NA18614, NA18544, NA18747, NA18613, HG00629, NA18538, HG01867, HG02380, HG00428, NA19086, HG00653, NA18956, HG00475, NA18939, HG01810, HG00598, HG00844, NA18946, HG00525, NA19059, HG00410, HG00445, NA18978, NA18535, HG01131, NA19072, HG01800, HG01874, HG00607, NA18591, NA18610, NA18994, HG02396, HG02392, HG02182, NA18984, HG00472, HG00581, NA18965

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588924

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	68
Observed Complex	0
Frequency	n/a