Variant Details

Variant: esv2668531

Internal ID

9934636

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:48516811..48517461	hg38	UCSC Ensembl
	chr12:48910594..48911244	hg19	UCSC Ensembl

Cytoband

12q13.11

Allele length

Assembly	Allele length
hg38	651
hg19	651

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6379696, essv5740841, essv5406412, essv5407404, essv6066692, essv6359942, essv6301108, essv5676672, essv6456661, essv6153511, essv6555982, essv5945708, essv5782733, essv5522768, essv5761952, essv5464031, essv5777064, essv6333354, essv5608838, essv6019987, essv6143893, essv5722931, essv5475967, essv5978742, essv5578974, essv6374858, essv6385393, essv5446124, essv6183017, essv5959194, essv5457073, essv6580169, essv6103587, essv5397426, essv6303674, essv6123523, essv6558140, essv5940773, essv6576934, essv5953886, essv5583084, essv5928168, essv6017208, essv6042628, essv6204079, essv6548018, essv5859166, essv5943471, essv5626876, essv5553089, essv6349160, essv5587093, essv6187720, essv6140284, essv6338182

Samples

HG00143, HG00231, HG00142, NA10851, NA12414, NA11933, NA11931, NA20512, NA12004, HG01140, HG00641, HG00138, HG01070, NA20589, NA19723, NA12348, HG01083, NA20541, NA12761, NA20539, HG00236, HG00232, HG00159, NA20533, NA20755, NA20818, NA10847, NA20800, HG00266, NA19663, HG01334, NA18974, NA12775, HG00366, NA19144, NA07051, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, HG00116, NA20803, HG00256, NA20528, HG01251, HG00274, HG00252, NA20503, HG01082, NA12006, NA07000, HG00554, HG01437

Known Genes

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2668531

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	55
Observed Complex	0
Frequency	n/a