Variant Details

Variant: esv2677176

Internal ID

9596595

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:60502487..60503912	hg38	UCSC Ensembl
	chr17:58579848..58581273	hg19	UCSC Ensembl

Cytoband

17q23.2

Allele length

Assembly	Allele length
hg38	1426
hg19	1426

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5408239, essv5911996, essv6216428, essv5579366, essv5793545, essv5570235, essv5608029, essv5987901, essv6248261, essv6488643, essv6550606, essv5638146, essv6238982, essv5459241, essv5582862, essv6531700, essv6341289, essv5601124, essv5708242, essv6275329, essv5592469, essv6398398, essv5996465, essv6295157, essv5551927, essv5782941, essv6595200, essv6108381, essv6014396, essv6080556, essv6059987, essv6169067, essv6246924, essv5612520, essv6513046, essv6278094, essv5468641, essv6249484, essv5466957, essv6432203, essv5593711, essv6031101, essv6351655, essv6114338, essv5995877, essv6307900, essv5955636, essv5433820, essv6550432, essv6184595, essv5593618, essv5466918, essv6229047, essv5920376, essv5916473, essv6426543, essv5998538, essv5705686, essv6587345, essv6496535, essv5903548, essv6584964, essv5838423, essv6501262, essv5479485, essv5823207, essv5478156, essv5510963, essv6253084, essv6351518, essv5507039, essv5659656, essv5580402, essv5576299, essv5954170, essv5597491, essv5420257, essv5686876, essv5726435, essv6174483, essv5690489, essv5932830, essv5779045, essv6312078, essv5674205, essv6194599, essv6594815, essv6131006, essv6468110, essv5807575, essv6020629, essv6592276, essv6306505, essv5546969, essv6523873, essv6324850, essv5785098, essv5545954, essv6351166, essv5593466, essv6417459, essv5589327, essv5843836, essv5806022, essv6024393, essv6465183, essv5941659, essv5852015, essv6480552, essv5414180, essv5998984, essv6173833, essv5451895, essv6092474, essv6080976, essv5755141, essv6365951, essv6193145, essv6061167, essv5815735, essv6423471, essv5959098, essv5949989, essv6098447, essv6436525, essv5962535, essv5512877

Samples

NA19394, NA18502, NA19701, NA19700, NA18924, HG01462, NA19204, NA18861, NA19914, HG01052, NA19332, NA19704, NA19359, NA18486, NA19819, NA19393, NA18504, NA19377, NA19443, NA18870, NA19920, NA19107, NA19374, NA19381, NA19373, NA18519, NA19319, NA18489, NA19448, NA19723, NA19119, NA18923, NA19198, NA20317, NA19131, NA18916, NA19457, NA19313, NA18498, NA19904, NA19130, HG01067, NA19383, NA18874, NA18868, NA19917, NA20340, NA19372, NA19371, NA19235, NA19385, NA19172, NA19471, NA19317, HG00637, NA19239, NA19209, NA19456, NA19445, NA20127, NA18867, HG01550, NA19921, NA19908, NA19437, NA19403, NA19462, NA19347, NA19391, NA19327, NA18871, NA20344, HG01390, NA19461, NA20299, NA19449, NA18499, NA19453, NA18853, NA19338, NA19257, NA19452, NA19225, NA19469, NA19160, NA19395, NA19625, HG01075, NA19436, NA19375, NA19390, NA18909, NA19256, NA19712, NA19434, NA19473, NA19435, NA19444, NA19240, NA19144, HG01375, NA19835, NA19334, NA19439, NA19470, NA19428, NA19467, HG01108, NA19818, NA19376, NA18501, NA19438, NA19468, NA19713, NA19093, NA19116, NA19213, NA19430, NA18505, NA19316, NA19312, NA19463, NA18511, NA18522, NA19429, NA19153, NA19431

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)

esv2677176

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	127
Observed Complex	0
Frequency	n/a