Variant Details

Variant: esv2667779

Internal ID

9933884

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:110496585..110496726	hg38	UCSC Ensembl
Outer	chr13:110496548..110496776	hg38	UCSC Ensembl
Inner	chr13:111148932..111149073	hg19	UCSC Ensembl
Outer	chr13:111148895..111149123	hg19	UCSC Ensembl

Cytoband

13q34

Allele length

Assembly	Allele length
hg38	229
hg19	229

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6137719, essv6095725, essv6069673, essv6479933, essv5533120, essv6263787, essv6590341, essv5982471, essv5980988, essv6251900, essv6493841, essv6286200, essv6006905, essv5698837, essv6116799, essv5604606, essv5572100, essv5745354, essv5832896, essv6377494, essv6425625, essv6231809, essv6587998, essv5715305, essv6358130, essv6110945, essv5813443, essv5445350, essv6403372, essv6073699, essv6076913, essv6498487, essv5730038, essv5563025, essv6488294, essv6177719, essv6286606, essv6543674, essv5837407, essv5401066, essv6416382, essv6160691, essv6594628, essv6103550, essv5944923, essv5482133, essv6538010, essv5749399, essv6088661, essv5440850, essv5760868, essv5981440, essv5553841, essv5911887, essv6383030, essv5578547, essv5807799, essv5936770, essv6445981, essv6272550, essv6280903

Samples

HG00650, NA18621, HG00524, NA18599, NA18486, HG00449, HG00654, HG01366, NA18597, NA18595, NA18635, NA18558, HG00330, HG01492, HG00346, NA18582, HG01083, NA18964, HG00427, NA18557, HG00326, HG00530, HG00419, HG00464, NA18544, NA18613, HG00282, HG00328, HG00436, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00284, HG00651, HG00690, HG00479, HG00331, NA18532, HG01101, HG00525, NA18576, NA18632, NA18542, HG00336, HG00285, NA18543, HG00607, HG00418, HG00707, HG00614, HG00513, HG00421, HG01377, HG00472, NA18624, NA18623, HG01061, HG00437

Known Genes

COL4A2

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2667779

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	61
Observed Complex	0
Frequency	n/a