Variant Details

Variant: esv2671823

Internal ID

9591242

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:60502355..60504111	hg38	UCSC Ensembl
Outer	chr17:60501984..60504481	hg38	UCSC Ensembl
Inner	chr17:58579716..58581472	hg19	UCSC Ensembl
Outer	chr17:58579345..58581842	hg19	UCSC Ensembl

Cytoband

17q23.2

Allele length

Assembly	Allele length
hg38	2498
hg19	2498

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5991941, essv5477797, essv5840332, essv6435805, essv6056822, essv5694477, essv6341921, essv5416738, essv6380409, essv6175769, essv6571092, essv5520413, essv5900474, essv5661345, essv6244614, essv5567230, essv6258917, essv5486466, essv5730792, essv5447534, essv6227402, essv5492664, essv6178732, essv5555732, essv5415821, essv5688620, essv5573714, essv6259526, essv6231071, essv5687905, essv6351957, essv5905655, essv6261608, essv6293007, essv6257341, essv5789877, essv6511603, essv5694769, essv6231405, essv6281785, essv5467594, essv5469433, essv5539981, essv6147247, essv6025919, essv6129297, essv6073437, essv6367685, essv5631769, essv5978486, essv6404146

Samples

NA19207, NA18870, NA19625, NA18861, NA19712, NA19904, NA19819, NA19209, NA18501, NA19093, NA20294, NA19920, NA19144, NA19257, NA18505, NA18868, NA20340, NA19914, NA19917, NA19197, NA19908, NA19835, NA18916, NA19700, NA20341, NA19213, NA19247, NA19153, NA18498, NA18923, NA18486, NA20344, NA18502, NA19119, NA19713, NA18504, NA19704, NA19131, NA19235, NA19921, NA20276, NA19116, NA20289, NA19818, NA20317, NA19225, NA18917, NA19160, NA18924, NA19130, NA19204

Known Genes

APPBP2

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)

esv2671823

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a