A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663948



Internal ID9583367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5690084..5693490hg38UCSC Ensembl
Outerchr2:5689713..5693860hg38UCSC Ensembl
Innerchr2:5830216..5833622hg19UCSC Ensembl
Outerchr2:5829845..5833992hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv676e199
Supporting Variantsessv6217223, essv6237298, essv6229960, essv5744964, essv6379893, essv5664370, essv5985211, essv5493452, essv6092556, essv6579280, essv5594812, essv6597994, essv6473171, essv5506001, essv6323031, essv6466226, essv6268740, essv6253262, essv5644817, essv6233625, essv6147500, essv5982216, essv5821744, essv6164442, essv5489699, essv6074409, essv5522169, essv5491169, essv6312186, essv5644340, essv5945353, essv6392945, essv5402228, essv6179831, essv6164806, essv5538236, essv6209762, essv5566466, essv6324935, essv6311442, essv5564567, essv6442134, essv6077785, essv6246496, essv6498755, essv5831363, essv5812916, essv5448804, essv5782533, essv6208548, essv6447051, essv6152687, essv6020844, essv6526895, essv6486426, essv6009669, essv6442443, essv5894644, essv5806719, essv6530252, essv6478013, essv5651040, essv5757947, essv6016885, essv5708642, essv5872017, essv5473500, essv5706222, essv5887813, essv5666255, essv6386185, essv6008162, essv6083025, essv5842245, essv5442011, essv5554113, essv6416953, essv5692146, essv5518470, essv5887206, essv5569325, essv5783264, essv5560663
SamplesHG00626, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581, HG00593
Known GenesSOX11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663948
Frequency
Sample Size1151
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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