A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677176



Internal ID9596595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60502487..60503912hg38UCSC Ensembl
chr17:58579848..58581273hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381426
hg191426
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677176
Frequency
Sample Size1151
Observed Gain0
Observed Loss127
Observed Complex0
Frequencyn/a


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