A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667857



Internal ID9587276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61647741..61653848hg38UCSC Ensembl
chr1:62113413..62119520hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386108
hg196108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45e199
Supporting Variantsessv5424720, essv5878197, essv6101937, essv5690012, essv5498629, essv6186686, essv6134332, essv5618127, essv6469185, essv5756739, essv6499544, essv6501779, essv6351593, essv5870836, essv6512620, essv6197392, essv6517669, essv6290063, essv6421059, essv5603883, essv6069487, essv6444750, essv6572573, essv6236644, essv6256568, essv6253373, essv5666253, essv5442173, essv6487407, essv5475111, essv5436143, essv5854933, essv6355068, essv5559624, essv6464972, essv6387370, essv6064153, essv5975182, essv5957215, essv6373504, essv5658450, essv5791013, essv5408658, essv5407123, essv5927644, essv5658208, essv6488130, essv6329821, essv6309589, essv6432083, essv5457168, essv6015416, essv5419997, essv5650775, essv5601886, essv5614117, essv5395772, essv5702747, essv5984174, essv5853485, essv5469685, essv6127565, essv6518199, essv6306675, essv5674978, essv5519231, essv6180260, essv6272695, essv6223099, essv6029094, essv5485695, essv6011488, essv5679077, essv5673024, essv6191340, essv6471137, essv6533917, essv6102848, essv5455420, essv5832324, essv5575146, essv5662303, essv5767096, essv6340224, essv6551779, essv6537859, essv6087480, essv5679682, essv6088419, essv5529211, essv6371112, essv5596162, essv6002246, essv5560881, essv6366087, essv6014018, essv5807062, essv5465349, essv5535265, essv6428123, essv6059582, essv5438716, essv5415603, essv6326701, essv6529333, essv6294831, essv6014423, essv6120349, essv6178860, essv5577441, essv6356580, essv5638906, essv6487310, essv6030911, essv6421903, essv5542014, essv5964618, essv5816603, essv5616466, essv6217969, essv5537626, essv5541262, essv6085886, essv5439772, essv5973866, essv5745015, essv5584915, essv6038152, essv6131003, essv5404479, essv6416888, essv6050388, essv6107482, essv5776422, essv5867959, essv6020431, essv5929238, essv6321056, essv6067360, essv5809541, essv5801282, essv5724600, essv6003180, essv5846558, essv5792401, essv5456361, essv5406809, essv6540121, essv5624152, essv6255407, essv6280286, essv6145631, essv5665954, essv5763367, essv6478659, essv6013592, essv5727623, essv6521062, essv5755502, essv5862167, essv5750148, essv6313559, essv5886018, essv6520563, essv5957855, essv6028098, essv6275716, essv5847305, essv5884656, essv6389987, essv5690652, essv5520894, essv6369402, essv6339827, essv5769415, essv5425878, essv6265548, essv6268627, essv6400465, essv5448077, essv5730413, essv6285965, essv5958577, essv5427156, essv6010169, essv5578460, essv6242098, essv6095520, essv6448794, essv5535379, essv6102283, essv5715719, essv5639584, essv5790963, essv6201384, essv5774470, essv6052492, essv6377841, essv6165350, essv5464062, essv6196337, essv5668503, essv5776153, essv5467207, essv6552117, essv5752992, essv6206999, essv6164234, essv6328854, essv5714601, essv5822875, essv6550610, essv6074124, essv5597967, essv5399107, essv6493277, essv5840131, essv6551886, essv6242551, essv5915403, essv6546142, essv6321921, essv5429478, essv5698480, essv6480981, essv5805657, essv5725932, essv5994155, essv5826508, essv5914595, essv5566670, essv5693861, essv5469332, essv5776533, essv5859614, essv5934311
SamplesNA20588, NA12383, NA19058, NA12842, NA12286, NA20508, NA19664, HG00257, HG01066, NA18999, NA20802, NA12751, NA19684, NA18959, HG00115, HG00449, HG01461, HG01051, NA19920, HG00261, NA20771, NA12750, NA12399, NA18602, NA18627, HG00337, NA12813, HG00663, HG00641, HG00589, HG00122, HG01168, NA18567, NA18558, NA18574, NA07347, HG00334, HG00185, HG00537, HG00243, HG00158, HG00512, HG01069, NA19720, HG01080, HG01519, HG00325, NA11932, HG00534, HG00705, HG00160, HG01048, HG01133, HG00323, HG01550, NA20753, HG01124, HG00154, NA18951, HG00268, NA19670, HG00732, NA19717, NA20314, NA19663, NA19081, NA12718, NA18948, HG00740, HG01102, HG00324, HG00690, HG00331, NA19750, HG01334, NA19009, HG00146, HG00463, NA18593, HG00258, NA19729, NA19652, HG00155, HG00625, NA19747, NA20815, NA12272, HG01174, HG01375, NA19835, HG00237, HG01113, NA18610, HG00620, HG00339, NA19785, HG00259, NA19779, NA18609, HG00595, NA20502, HG01125, NA20585, NA19676, HG00096, HG01060, HG00114, NA19648, NA11830, HG00592, HG01098, NA20543, NA11829, HG01359, HG00524, HG01079, HG00100, NA19704, NA18599, NA18603, HG00367, HG00318, HG00103, NA19777, HG01456, HG00566, NA18606, HG00177, HG00150, NA18526, NA12155, NA07357, NA12341, NA20537, NA19068, HG01250, HG00127, NA20796, NA19005, HG01366, NA18595, HG00448, NA18635, NA20317, NA18619, HG00330, HG00634, HG00346, NA12287, NA19681, HG01134, HG01455, HG00106, HG00236, HG01072, HG00422, HG01176, NA19087, NA12889, HG01440, HG00182, HG00637, HG00178, HG00419, HG00464, NA11831, HG00560, NA18613, HG01187, HG00596, HG00328, NA12003, HG00577, HG00475, HG00436, NA19982, HG00584, HG00533, NA18637, HG00619, HG00708, HG01094, HG01073, NA19655, NA12249, HG01383, HG00117, HG00613, HG00321, NA18536, NA18546, NA19685, HG00476, NA20773, HG00119, HG01190, NA18961, NA18559, NA19749, HG00366, NA18950, NA19732, HG01494, HG00607, NA19786, HG00319, HG01108, NA20797, NA07037, NA19078, HG00672, HG00111, NA20348, NA19248, NA20582, HG00329, NA18987, HG01055, HG00174, HG00123, HG00698, HG00131, NA20528, HG01251, HG00252, NA19661, HG01377, NA19755, HG01082, HG01097, HG00554, NA18549, HG01061, HG00437, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667857
Frequency
Sample Size1151
Observed Gain0
Observed Loss236
Observed Complex0
Frequencyn/a


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