Variant Details

Variant: esv2665342

Internal ID

9584761

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr7:5731358..5731914	hg38	UCSC Ensembl
	chr7:5770989..5771545	hg19	UCSC Ensembl

Cytoband

7p22.1

Allele length

Assembly	Allele length
hg38	557
hg19	557

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5440673, essv5749848, essv6257212, essv5578723, essv5476310, essv5915183, essv6154320, essv6364531, essv6259055, essv6457580, essv5732161, essv6450058, essv5450217, essv6271221, essv6486859, essv6594413, essv6115533, essv5961486, essv5914615, essv6371788, essv6035459, essv5631342, essv6182163, essv5424143, essv6280143, essv5577632, essv5438859, essv6032568, essv5996091, essv6030316, essv5401742, essv6327791, essv6471299, essv6564075, essv5697944, essv5599534, essv5494582, essv6064918, essv6184631, essv5862808, essv5404620, essv5810025, essv5454258, essv6537220, essv5691856, essv6230971, essv5474100, essv6505741, essv6453192, essv5981569, essv5418855, essv6016620, essv6140554, essv5776781, essv6531004, essv6469007

Samples

NA19137, NA18870, NA07347, NA19712, NA18520, NA20278, NA18933, NA18523, NA18570, NA19223, HG01079, NA18603, NA11931, NA19359, NA19379, NA19108, HG01551, NA18868, NA12414, NA18934, NA18508, NA12004, HG01048, NA19396, NA18592, NA18856, NA19397, NA19985, NA11894, NA20336, NA11995, NA18916, NA19457, NA20341, NA19324, NA12006, NA19395, NA19703, NA18923, NA19713, NA18858, NA18910, NA19382, NA19201, NA18867, NA20287, NA19818, NA11830, NA19225, NA19399, NA19204, NA18908, NA19381, NA19092, NA19385, NA18980

Known Genes

RNF216

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2665342

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a