Variant Details

Variant: esv2661223

Internal ID

9927328

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:53671695..53671893	hg38	UCSC Ensembl
	chr2:53898832..53899030	hg19	UCSC Ensembl

Cytoband

2p16.2

Allele length

Assembly	Allele length
hg38	199
hg19	199

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5679278, essv6291712, essv6233023, essv6585585, essv5671675, essv5473084, essv6390062, essv5516297, essv6432158, essv6202147, essv5712526, essv6017255, essv6372309, essv6126576, essv6585120, essv5877998, essv6099254, essv5469939, essv5515368, essv6217563, essv6524578, essv5795486, essv6286070, essv5919172, essv5549868, essv5673302, essv6045164, essv6575159, essv5981921, essv6476608, essv5399552, essv6137949, essv5845660, essv5896285, essv6347916, essv5543319, essv6214088, essv5695030, essv6547816, essv5501373, essv6204793, essv6353618, essv5408198, essv5820774, essv6499387, essv6503803, essv5706016, essv5858785, essv5880428, essv6576798, essv5396793, essv5503641, essv5953025, essv6533420, essv6328410, essv6278685, essv5956919, essv6560537, essv5609564, essv6469279, essv5549901, essv5774847, essv5811795, essv5502003, essv6132416, essv5814927, essv6001600, essv6528025, essv6382544, essv5678291, essv5907909, essv5776967, essv6272254, essv5778122, essv6400545, essv6047930, essv5648912, essv6069235, essv6064222, essv5777947, essv5586691, essv6010106, essv5880400, essv6216922, essv6394907, essv5748055, essv5831666, essv6116227, essv5831511, essv5600733, essv5412632, essv5866928, essv5880279, essv5737172

Samples

HG01060, NA19701, HG01173, HG00143, HG01462, HG00249, NA11995, NA12273, NA18980, HG01079, NA11920, NA12045, NA18486, NA18545, NA12004, NA20346, NA20356, HG00337, NA07346, NA19374, NA19396, HG00138, HG01350, NA18519, HG01366, HG01177, NA20317, HG00330, NA19197, HG00346, NA19138, NA20759, HG01455, NA19383, NA06984, HG00236, NA11932, HG00232, NA19371, NA12044, HG00159, HG01048, NA19209, HG00326, NA19985, NA19789, NA19451, HG00264, HG00108, NA11831, HG00149, NA12489, NA19462, NA19152, HG00320, NA18871, HG00239, HG00324, HG00284, HG01073, NA18573, NA11919, HG00331, NA18499, NA18856, HG01334, HG00276, NA19225, HG00246, NA11881, HG00336, NA19108, NA12775, HG00353, HG00237, HG00319, NA20516, NA19360, NA19818, HG00111, NA20348, HG00329, HG00342, HG01055, HG00310, NA20528, HG00274, HG00252, HG01377, NA12890, NA12154, NA20754, NA18487, NA18577

Known Genes

ASB3, GPR75-ASB3

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2661223

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	94
Observed Complex	0
Frequency	n/a