Variant Details

Variant: esv2670286

Internal ID

9936391

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:41088356..41108356	hg38	UCSC Ensembl
	chr17:39244608..39264608	hg19	UCSC Ensembl

Cytoband

17q21.2

Allele length

Assembly	Allele length
hg38	20001
hg19	20001

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv552e199

Supporting Variants

essv6242516, essv6399631, essv5840228, essv6109815, essv6216319, essv6495522, essv6185698, essv6352933, essv6191115, essv5762565, essv5771144, essv6271525, essv6070132, essv6354022, essv5772538, essv5671210, essv5466740, essv5729959, essv6270684, essv6365597, essv6016280, essv5993418, essv5577892, essv5824863, essv5516742, essv5894708, essv6321913, essv5640603, essv5834455, essv5714167, essv5753456, essv5418096, essv5471788, essv6009795, essv6285434, essv5469731, essv5658144, essv6062516, essv5686834, essv6074910, essv5943661, essv6541705, essv5543153, essv5657964, essv6305370, essv5603943, essv5811844, essv6417520, essv5760873, essv5781685, essv6024917, essv5651794, essv6217966, essv6316540, essv6134119, essv5597504, essv6176547, essv6153627, essv6234155, essv6052351, essv6232223, essv5850733, essv5877809, essv6461937, essv6510045, essv5632691, essv5435918, essv6090176, essv6510909, essv6199739, essv5842355, essv6295663, essv6406162, essv5759174, essv6510863, essv6190047, essv5791974, essv6257942, essv5918706, essv6241987, essv5561713

Samples

HG01441, NA19703, NA18924, NA19664, HG00361, HG00242, HG01079, HG01389, HG01066, NA20512, HG00640, HG01465, HG01518, NA20517, NA20507, NA20771, NA20806, HG00693, HG00337, HG00271, HG01250, NA19379, HG01366, HG01351, HG01177, NA19678, NA19198, HG01492, NA07347, NA19904, HG00311, NA20759, HG00277, HG01455, NA19720, HG01067, HG00106, HG01170, HG00325, HG00262, HG00705, HG01440, HG00159, HG01048, NA18867, NA20755, HG00731, HG01171, HG00732, NA20521, NA20506, HG00551, HG00619, HG00239, HG01047, NA20525, HG00373, NA12829, HG00157, HG00152, NA18963, HG00141, NA20542, NA20534, HG00258, HG00119, NA20530, HG01113, NA12763, HG00339, HG00707, NA19223, HG00186, NA19770, NA11843, NA19900, NA20502, NA18612, NA19074, HG01437, HG01061

Known Genes

KRTAP4-8, KRTAP4-9

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2670286

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	81
Observed Complex	0
Frequency	n/a