A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661270



Internal ID9580689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1625736..1635660hg38UCSC Ensembl
Outerchr1:1625365..1636030hg38UCSC Ensembl
Innerchr1:1561116..1571022hg19UCSC Ensembl
Outerchr1:1560745..1571392hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3810666
hg1910648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426813, essv6428230, essv6335638, essv6126898, essv5949761, essv5824569, essv6548334, essv5625476, essv5791495, essv5628348, essv6059373, essv5573107, essv5643096, essv6571513, essv5858849, essv6475633, essv6113138, essv5593315, essv6507928, essv5485712, essv5738802, essv6569672, essv6141404, essv5613721, essv5605080, essv6182156, essv5475531, essv6184775, essv5815876, essv5468288, essv6315048, essv5653921, essv6260213, essv6022491, essv6489635, essv6126633, essv6071888, essv5665738, essv6261109, essv5786512, essv5789412, essv6328148, essv5937538, essv6130761, essv5609560, essv6485645, essv5639379, essv5928230, essv6211219, essv5714079, essv6414757, essv5920723, essv6342848, essv5975210, essv6312198, essv5539470, essv6036632, essv5858500, essv5413048, essv5597414, essv5839359, essv5653363, essv5954824, essv6099313, essv5619505, essv5984077, essv5395845, essv5530709, essv6217076, essv6488862, essv5712261, essv6334615, essv6263804, essv6010091, essv5850341, essv5603865, essv6412490, essv6249390, essv5760634, essv5909524, essv6363404, essv5422893, essv5845328, essv6021583, essv6505176, essv6468817
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesCDK11B, MIB2, MMP23A, MMP23B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661270
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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