Variant Details

Variant: esv2666744

Internal ID

9932849

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:32598509..32599326	hg38	UCSC Ensembl
Outer	chr22:32598470..32599383	hg38	UCSC Ensembl
Inner	chr22:32994495..32995312	hg19	UCSC Ensembl
Outer	chr22:32994456..32995369	hg19	UCSC Ensembl

Cytoband

22q12.3

Allele length

Assembly	Allele length
hg38	914
hg19	914

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5453001, essv6187339, essv5496833, essv6225166, essv6223093, essv5794211, essv5699934, essv5500194, essv6165021, essv5699563, essv6334053, essv5742026, essv5703507, essv5967846, essv5780598, essv5616034, essv6138312, essv6594965, essv6058511, essv6421437, essv6275334, essv5672713, essv5758357, essv5953562, essv5692733, essv6371460, essv5416255, essv6234388, essv6502415, essv5855889, essv6054666, essv5448792, essv6058006, essv6201325, essv6371932, essv6114622, essv6517551, essv5660151, essv5783979, essv6530423, essv6544362, essv6483437, essv5411053, essv6435076, essv6034509, essv5477910, essv5814113, essv5757497, essv6332764, essv6404256

Samples

HG01060, HG01462, NA10851, NA12414, NA18870, HG01051, NA19067, NA18597, NA18923, NA18916, HG00590, NA18560, NA19235, HG00422, HG00427, HG00419, NA19908, HG00443, NA19082, NA19707, HG00428, NA19455, NA18516, NA18534, NA20770, NA18548, NA19084, NA12829, NA19009, NA18963, NA18523, NA18536, NA19401, NA18632, HG00336, NA18961, NA18517, NA19434, NA20815, NA12046, NA20527, NA20341, NA19818, NA19093, NA19900, NA18989, NA19004, NA19063, NA18577, NA20509

Known Genes

SYN3

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2666744

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	50
Observed Complex	0
Frequency	n/a