A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678785



Internal ID9598204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128083771..128085777hg38UCSC Ensembl
Outerchr12:128083400..128086247hg38UCSC Ensembl
Innerchr12:128568316..128570322hg19UCSC Ensembl
Outerchr12:128567945..128570792hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6522654, essv5667385, essv5793111, essv6088231, essv5780397, essv5699966, essv5996744, essv6371248, essv6017404, essv5844100, essv5633130, essv5989233, essv5430606, essv6274699, essv6564313, essv6391431, essv6000023, essv6115906, essv5627106, essv5780389, essv6100166, essv5635224, essv6099010, essv6357313, essv5426906, essv5604464, essv6153953, essv6594801, essv5491852, essv5960101, essv5895313, essv5408144, essv5868119, essv5856733, essv5801354, essv5601494, essv6222850, essv5893534, essv5771220, essv5609347, essv5925278, essv6434617, essv6130141, essv6510905, essv5397914, essv5642202, essv6415381, essv6549156, essv6442642, essv6319122, essv6447097, essv5625480, essv6380862, essv5801359, essv6289597, essv5427364, essv6556060, essv6210771, essv5566554, essv5782844, essv5682869, essv5474377, essv5680968, essv5612851, essv5469034, essv5616599, essv6231700, essv5442266, essv6470623, essv6050011, essv6268488, essv5578615, essv5479069, essv5962600, essv5941104, essv6285069, essv6381755, essv6403764, essv6074517, essv5748857, essv5486206, essv5579287, essv5592138, essv5815704, essv6355664, essv6155144, essv5795111, essv6421029, essv6444650, essv5863615, essv5736693, essv5932883, essv6317778, essv5803775, essv5506246, essv5965093, essv6181453, essv6011257, essv5651005, essv6417536, essv6347594, essv5987775, essv6445866, essv5912152, essv6174003, essv6015465, essv6320079, essv6418740, essv5744341, essv5887754, essv5805893, essv6501133, essv5893122, essv6360748, essv6129450, essv6445366, essv5842330, essv6373619, essv5498306, essv6137437, essv6497455, essv6472328, essv5742889, essv6592767, essv5592540, essv5862217, essv5552456, essv5797622, essv5408726, essv5680202, essv5924599, essv5510588, essv6257537, essv6395512, essv6075969, essv6096411, essv5996329, essv6358775, essv5863958, essv5946020
SamplesHG00593, HG00626, HG00403, HG01060, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG01052, HG01079, HG01188, HG01066, HG00640, HG00699, HG00566, HG00737, HG00449, HG00654, HG01051, HG00693, HG00663, HG00641, HG01070, HG00589, HG00501, HG01167, HG00702, HG00689, HG00448, HG01168, HG00634, HG00736, HG00610, HG01083, HG00537, HG00590, HG00512, HG01069, HG01080, HG01067, HG00683, HG01170, HG01072, HG00534, HG00422, HG01176, HG00705, HG00427, HG01198, HG00637, HG01048, HG00530, HG00419, HG00464, HG00543, HG01183, HG00731, HG00629, HG00443, HG01187, HG01171, HG00596, HG00557, HG00428, HG00732, HG00653, HG00577, HG01095, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00740, HG01047, HG01102, HG01073, HG00651, HG00690, HG00404, HG00531, HG00479, HG01197, HG00684, HG01182, HG01101, HG00613, HG00525, HG00704, HG00463, HG01107, HG01204, HG01075, HG00611, HG00476, HG01190, HG00625, HG00565, HG00580, HG00734, HG00638, HG01174, HG00473, HG01108, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG01055, HG00698, HG00595, HG00472, HG01082, HG00628, HG00554, HG01191, HG01061, HG00553, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678785
Frequency
Sample Size1151
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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