A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672182



Internal ID9591601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41003395..41003533hg38UCSC Ensembl
chr13:41577531..41577669hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6235308, essv5519501, essv5667047, essv5483096, essv6298134, essv6303717, essv5929715, essv5888687, essv6160135, essv5777279, essv5779035, essv5829712, essv6207376, essv5614440, essv6190357, essv6026691, essv5525229, essv5847481, essv6238865, essv5446522, essv5684270, essv6084779, essv6275061, essv6030600, essv6358429, essv5526763, essv5548213, essv5405931, essv6113475, essv5991785, essv6396873, essv6333414, essv6047344, essv6502996, essv6403513, essv5621795, essv6271551, essv6424467, essv5637260, essv5868138, essv5764957, essv6124526, essv5436697, essv5760540, essv5556644, essv5682176, essv6006933, essv6302846, essv5933692, essv6335266, essv5797680, essv6042968, essv5647012, essv6189478, essv5669454, essv6257011, essv6032812, essv5424201, essv5621310, essv5400134, essv6308318, essv6315705, essv5693840, essv5509252, essv6527745, essv5751505, essv6312627, essv6147445, essv5898109, essv6247732, essv6350459, essv6426658, essv6374211, essv6129035, essv5429911, essv5648380, essv5988589, essv5549498, essv5450050, essv5833606, essv6469678, essv5846034, essv6164971, essv5532054, essv5857797, essv6128487, essv5721700, essv5526482, essv5632238, essv6547398, essv5915765
SamplesHG00403, HG00650, HG00442, NA18621, HG00671, HG00559, HG00524, NA18545, HG00449, HG00654, NA18526, NA18602, NA19107, HG00663, NA19068, NA18944, NA18940, HG00501, NA18489, HG00702, HG00689, NA18558, HG01083, HG01365, HG00590, HG00512, NA19720, HG01080, HG00683, HG00705, NA19901, HG00464, NA18951, NA18544, HG00443, HG00557, NA19077, NA18956, HG00657, HG00475, NA18516, HG00436, HG00556, HG00584, HG00533, HG00583, HG00344, NA18572, NA18534, NA18537, NA18566, HG00324, NA19000, HG00531, HG00684, NA18856, NA18532, HG01101, HG00525, HG00321, NA18553, NA19099, NA18963, HG00704, NA18576, NA18632, HG00476, NA19652, NA18961, NA18952, NA18559, HG00580, HG00418, NA18610, NA18501, HG00707, HG00513, HG00578, HG00656, HG00310, HG00698, HG00252, HG00472, NA18624, NA18623, NA18622, HG00437, HG00581, NA18965, NA18577, NA18620
Known GenesELF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672182
Frequency
Sample Size1151
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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