A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678460



Internal ID9944565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:60087961..60088417hg38UCSC Ensembl
Outerchr20:60087540..60088837hg38UCSC Ensembl
Innerchr20:58663016..58663472hg19UCSC Ensembl
Outerchr20:58662595..58663892hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5431663, essv5849222, essv5565118, essv6070029, essv5841160, essv5813704, essv6252414, essv6094679, essv5651832, essv5588066, essv5674379, essv5683072, essv6328528, essv6283125, essv5598229, essv5579133, essv5988127, essv5533768, essv6364972, essv6560912, essv5700364, essv6099480, essv5673686, essv6129900, essv5505002, essv5932523, essv5855944, essv6549901, essv5866980, essv6300008, essv5989023, essv5631952, essv6231203, essv6511645, essv6026880, essv5568512, essv6251896, essv6267490, essv6490805, essv5861250, essv5489321, essv6321557, essv5887545, essv6330376, essv6452732, essv5796475, essv6102472, essv5922135, essv6061362, essv5814112, essv5544319, essv5910721, essv5661505, essv5631098, essv6554023, essv6555682, essv6428049, essv6161616, essv5565799, essv6110694, essv5702336, essv6388517, essv5424737, essv6575736, essv5883013, essv6159188, essv6426531, essv5918003, essv5954249, essv6499833, essv5478321, essv6254320, essv5631787, essv5487336, essv5947553, essv6149963, essv5688469, essv5563734, essv5497709, essv5737983, essv5923046, essv6317219, essv5517466, essv6112664, essv6152237, essv6458584, essv6426113, essv6054354, essv5546016, essv5438049, essv5445676, essv5633767, essv6064808, essv5463139, essv6380413, essv5420754, essv6583017, essv6248937, essv6156616, essv6120517, essv5483164, essv5833709, essv6068224, essv5750296, essv5765123, essv5416228, essv6296447, essv5571106, essv5704699, essv5773182, essv5998568, essv5640624, essv6209328, essv6401449, essv5544799, essv5838541, essv6529797, essv5498422, essv6059294, essv6132846, essv6215082, essv5924037, essv5602393, essv5719650, essv5960705, essv6214581, essv6597317, essv5642540, essv6511878, essv6377213, essv5671359, essv5540540, essv5899271, essv5554105, essv5919920
SamplesHG00626, HG00189, HG00650, HG00542, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00187, HG00315, HG00367, HG00181, HG00699, HG00566, HG00179, HG00449, HG00177, HG00693, HG00337, HG00327, HG00271, HG00663, HG00272, HG00501, HG00448, HG00173, HG00346, HG00369, HG00270, HG00185, HG00537, HG00311, HG00590, HG00512, HG00281, HG00683, HG00325, HG00534, HG00422, HG00705, HG00309, HG00182, HG00427, HG00326, HG00178, HG00323, HG00530, HG00419, HG00464, HG00543, HG00313, HG00188, HG00629, HG00443, HG00268, HG00183, HG00176, HG00282, HG00596, HG00328, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00368, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00275, HG00619, HG00708, HG00692, HG00324, HG00284, HG00651, HG00690, HG00373, HG00531, HG00479, HG00331, HG00684, HG00613, HG00525, HG00321, HG00276, HG00704, HG00463, HG00476, HG00336, HG00285, HG00625, HG00565, HG00353, HG00375, HG00278, HG00473, HG00319, HG00662, HG00418, HG00620, HG00339, HG00269, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00312, HG00421, HG00329, HG00656, HG00342, HG00267, HG00310, HG00698, HG00280, HG00343, HG00377, HG00372, HG00274, HG00595, HG00472, HG00345, HG00180, HG00437, HG00581, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678460
Frequency
Sample Size1151
Observed Gain0
Observed Loss135
Observed Complex0
Frequencyn/a


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