A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657354



Internal ID9576773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179313371..179313790hg38UCSC Ensembl
chr5:178740372..178740791hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6212923, essv5848142, essv5775056, essv6265314, essv6102525, essv5939396, essv6577085, essv5831241, essv6196175, essv5690356, essv6176983, essv5609812, essv5920817, essv5757964, essv6389183, essv6136808, essv6051410, essv6342832, essv6422773, essv6149850, essv5460053, essv5511103, essv5717739, essv6122141, essv6346099, essv5460652, essv5669744, essv6558600, essv5874538, essv5646959, essv5665598, essv6293826, essv6580571, essv6172083, essv6498538, essv5467293, essv5878142, essv6350949, essv6374137, essv5643371, essv5801694, essv6397998, essv5991982, essv6088313, essv6238264, essv6058595, essv6254957, essv6540251, essv6582393, essv5680863, essv6032735, essv5538281, essv6234692, essv6550527, essv6503577, essv5728503, essv6264758, essv5453376, essv6066216, essv6459294, essv6081041, essv5527972, essv6445254, essv5614303, essv5630815, essv6576106, essv5422975, essv5725233, essv6587132, essv5427087, essv5439247, essv6205585, essv6075393, essv5716730, essv5822380, essv5915496, essv5938788, essv5837882, essv5509911, essv6347558, essv6148151, essv6554699, essv5473272, essv6029317, essv6276536, essv6362638, essv5550971, essv6072323, essv6180869, essv6565945, essv6561386, essv5952186, essv5960229, essv6132379, essv5596350, essv6090194, essv5417723, essv6200078, essv5792526, essv6043221, essv5441991, essv6176784, essv5934063, essv5848308, essv5855585, essv6140143, essv5771666, essv5597496, essv5790102, essv5547462, essv5724306, essv6230356
SamplesHG00613, HG00537, HG00734, HG00536, HG01440, HG01353, NA18530, NA19081, HG00705, HG00437, HG01083, NA20510, HG00112, HG00736, NA19003, NA19072, HG00261, NA19455, HG01079, NA18603, NA20802, HG01389, NA20808, NA19451, HG00475, NA19010, HG00542, HG01350, NA18963, HG00187, HG00651, HG00557, HG01101, HG00578, HG00699, NA19467, NA20521, HG00353, HG00479, NA18596, HG00269, HG01133, NA18632, HG00342, HG00244, NA19077, HG01107, NA19463, NA20761, NA19428, NA19076, HG00593, NA18566, NA18536, HG00140, NA19443, NA18623, HG01048, HG00610, HG00315, NA19429, HG00338, HG00533, HG00419, HG01136, NA18982, NA19681, HG00254, NA19457, NA19082, HG00114, HG00306, HG01465, HG00653, NA20126, NA19716, NA20795, HG00559, NA20344, NA18558, HG00513, HG00329, HG00534, HG00246, HG00377, NA18606, NA18940, HG00151, NA18987, NA18582, NA18597, HG00443, NA19009, NA18560, NA18989, NA20289, NA18544, HG00654, NA20513, NA20810, HG00123, HG00708, NA18984, HG01125, HG00320, HG00690, HG00442, HG00473, HG00684, NA19448, NA18553, NA19439
Known GenesADAMTS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657354
Frequency
Sample Size1151
Observed Gain0
Observed Loss112
Observed Complex0
Frequencyn/a


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