A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675760



Internal ID9595179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530712..73558318hg38UCSC Ensembl
Outerchr14:73530191..73558888hg38UCSC Ensembl
Innerchr14:73997416..74025022hg19UCSC Ensembl
Outerchr14:73996895..74025592hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828698
hg1928698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e199
Supporting Variantsessv6262806, essv5920620, essv6373179, essv5512481, essv6453653, essv5607161, essv6077456, essv6374319, essv5936720, essv5409323, essv5797595, essv5988410, essv5647699, essv6519001, essv6455944, essv5840844, essv6095155, essv6002605, essv6070350, essv5919895, essv5723658, essv6102096, essv6266866, essv6118465, essv5467462, essv6591307, essv6324489, essv6574337, essv6452319, essv5757323, essv5841439, essv6049499, essv5435787, essv6339059, essv6104332, essv5773432, essv5478672, essv5959719, essv5470518, essv6062327, essv5692581, essv6143477, essv6585932, essv5603489, essv5635249, essv5784802, essv5773552, essv5482741, essv6399067, essv5971835, essv5447099, essv6579669, essv5596942, essv5735126, essv6433966, essv5884236, essv5997421, essv5826328, essv5431749, essv5862739, essv5685587, essv5422455, essv5459882, essv5765494, essv6366431, essv5895249, essv5640362, essv5724723, essv5524001, essv6145657, essv5605476, essv5958410, essv6556112, essv6374209, essv6258709, essv5545393, essv5516404, essv6416231, essv5727654, essv5757998, essv6086326, essv6200224, essv6577929, essv6012216, essv6495490, essv5480816, essv6447976, essv6130619, essv5772999, essv5815329, essv6247096, essv5472102, essv6445264, essv5532289, essv5442589, essv5923888, essv5878166, essv5659175, essv6581413, essv6539579, essv6453612, essv6160809, essv5796519, essv5426805, essv6075601, essv5727029, essv5797397, essv6423019, essv6530075, essv6231473, essv6227252, essv5898434, essv6047660, essv5941581, essv6096654, essv5762614, essv6095222, essv5704441, essv6209186, essv5610880, essv6107833, essv6569253, essv6421988, essv6327641, essv6453387, essv6304873, essv5489290, essv6018706, essv6500080, essv6356978, essv6082912, essv6158411, essv6493680, essv6349634, essv6363160, essv6476017, essv5976739, essv6560971, essv6199408, essv5704117, essv6108434, essv6021765, essv5953294, essv6208690, essv5722682, essv5918427, essv5922352, essv6075859, essv5562093, essv5755822, essv5605362, essv6402759, essv5651447, essv6000022, essv5980975, essv5839335, essv6478235, essv5665755, essv5675684, essv6205522, essv5422586, essv6198027, essv5710377, essv6428879, essv5446161, essv6257819, essv6444346, essv5648333, essv5543619, essv5944422, essv5955329, essv6050265, essv6321320, essv6002558, essv5427436, essv6528902, essv6571690, essv5453493, essv6066516, essv6312197
SamplesNA20588, HG00114, NA20761, NA20529, HG00143, NA20543, HG00231, NA19397, NA18924, NA20766, NA20508, NA19466, HG00242, NA18508, NA19399, NA19332, HG00100, NA18507, NA20531, HG00257, HG00151, HG00233, NA20802, NA20512, NA18917, HG00244, NA19359, HG00103, NA19355, NA18504, HG00150, NA20517, NA19190, HG00261, NA20771, NA18510, NA19396, HG00138, HG00127, NA19381, NA20796, NA19379, HG00251, NA19319, HG00122, NA19382, NA19315, NA20798, NA19448, NA20586, NA20774, NA19119, NA20756, NA19198, NA20769, NA20768, NA19457, HG00247, NA18498, HG00243, HG00158, NA20541, HG00139, NA20759, HG00120, NA20518, NA19383, HG00148, HG00106, NA20819, HG00156, HG00232, NA19372, NA19371, NA19235, NA19471, NA19317, NA20811, HG00160, NA18520, NA19445, HG00253, NA20515, NA19451, HG00264, NA20753, HG00108, HG00137, HG00133, HG00154, HG00149, NA19247, NA20800, NA20787, NA20524, NA19403, NA20505, NA19152, NA20810, NA20760, NA20536, NA19327, NA19455, NA19236, NA18516, NA20506, NA20519, NA18910, NA18871, NA20770, HG00239, NA18907, NA19114, HG00250, NA19449, NA18499, NA20538, NA19453, NA18912, HG00117, HG00157, HG00140, NA19099, HG01334, NA19452, HG00246, NA20534, NA19436, NA20526, NA19401, NA19375, NA20799, HG00124, NA20773, NA20522, NA19440, HG00254, HG00119, NA19390, HG00265, NA19147, HG00136, NA19331, NA19380, NA20785, NA20790, NA20527, NA20792, NA20778, HG00237, NA19428, NA20544, NA19467, NA20516, NA20797, NA19360, HG00256, HG00125, NA19376, NA19398, NA19328, HG00111, NA19248, NA19102, NA18873, NA20807, HG00131, NA20826, NA19213, NA20528, HG00252, NA20502, NA18511, NA20585, NA18522, NA20754, NA18487, NA19431, NA20772, NA20509
Known GenesACOT1, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675760
Frequency
Sample Size1151
Observed Gain0
Observed Loss180
Observed Complex0
Frequencyn/a


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