A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2677176

Internal ID9596595
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60502487..60503912hg38UCSC Ensembl
chr17:58579848..58581273hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5468641, essv6173833, essv5545954, essv5932830, essv5466918, essv5414180, essv5785098, essv5433820, essv5852015, essv5597491, essv5593711, essv6550432, essv6595200, essv5911996, essv5920376, essv6324850, essv6587345, essv5546969, essv5478156, essv6024393, essv6465183, essv5916473, essv6307900, essv6365951, essv5998984, essv5659656, essv5705686, essv6246924, essv6426543, essv5726435, essv6249484, essv6423471, essv5959098, essv6193145, essv6229047, essv5807575, essv6501262, essv5507039, essv5592469, essv6194599, essv6432203, essv6184595, essv5601124, essv6031101, essv6174483, essv5638146, essv5838423, essv6216428, essv5793545, essv6592276, essv5570235, essv5420257, essv6436525, essv5466957, essv5843836, essv6351518, essv6594815, essv5998538, essv5941659, essv6061167, essv5551927, essv6417459, essv6312078, essv5995877, essv5479485, essv6295157, essv6169067, essv6550606, essv5708242, essv5589327, essv6092474, essv6351166, essv5954170, essv6341289, essv6531700, essv6253084, essv5510963, essv6278094, essv6584964, essv6131006, essv5755141, essv6080976, essv5949989, essv6496535, essv5782941, essv6398398, essv6020629, essv5580402, essv6523873, essv5579366, essv5593466, essv6108381, essv5779045, essv6513046, essv5576299, essv5608029, essv6480552, essv5815735, essv5806022, essv5582862, essv5962535, essv6080556, essv5686876, essv6351655, essv5690489, essv6114338, essv6248261, essv5903548, essv5408239, essv6468110, essv5955636, essv5459241, essv5674205, essv5612520, essv5823207, essv6306505, essv6098447, essv6275329, essv5987901, essv6488643, essv6238982, essv5593618, essv6059987, essv5996465, essv6014396, essv5451895, essv5512877
SamplesNA18870, NA19312, NA19445, NA19625, NA18861, NA19436, NA19712, NA19904, NA18871, HG01052, HG01075, NA19819, NA19437, NA18874, NA19209, NA18501, NA19093, NA19469, NA18511, NA19435, NA20299, NA19319, NA19430, NA19317, NA19359, NA19334, NA19453, NA19338, NA19449, NA19920, NA18489, NA19461, NA19144, NA19257, NA19701, NA18505, NA19467, NA19438, NA18868, NA20340, HG01550, NA19463, NA19914, NA19428, NA19383, NA19239, HG01375, NA19390, NA19917, NA19443, NA19471, NA19107, NA19444, NA20127, NA19429, NA19908, NA19256, NA19835, NA18916, HG00637, NA19457, NA19700, NA19316, NA19213, NA19313, NA19377, NA19395, NA19153, NA19172, NA19372, NA19374, NA19375, NA19393, NA19373, NA18498, NA18923, NA18486, NA18522, NA20344, NA18502, NA19119, NA19713, NA18504, NA19704, NA19347, NA19332, NA19131, NA19462, NA19235, NA19921, NA19376, NA18909, NA19391, NA19723, NA18867, NA19394, NA19403, NA19116, NA19431, NA19434, NA19818, HG01390, NA19452, NA20317, NA19225, NA19327, NA19160, NA18499, NA18924, NA19371, NA19198, HG01108, NA19470, NA19130, NA19240, NA18853, NA19204, HG01462, NA19381, NA19473, NA19448, NA19468, NA19385, NA19456, NA18519, HG01067, NA19439
Known GenesAPPBP2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2677176
Sample Size1151
Observed Gain0
Observed Loss127
Observed Complex0

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