A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2671954

Internal ID9591373
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5457106..5457206hg38UCSC Ensembl
chr18:5457105..5457205hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5528504, essv5997903, essv5979443, essv6482923, essv6138462, essv5533929, essv6191974, essv6261101, essv5863469, essv6436897, essv5669817, essv6255983, essv6439185, essv6424407, essv6430706, essv6104994, essv6482706, essv6245526, essv5542132, essv6128951, essv5781920, essv6598116, essv5550998, essv5533808, essv6006996, essv6533693, essv6551828, essv6018079, essv5421546, essv5879939, essv5471751, essv5913450, essv5422027, essv6314140, essv5881139, essv5419793, essv6360119, essv5470022, essv5465313, essv6074427, essv6271434, essv6308372, essv6176019, essv5792879, essv6138362, essv6548808, essv5450675, essv5759880, essv6409384, essv5502587, essv5557038, essv6497931, essv5594506, essv6336460, essv6510508, essv5525562, essv5666043, essv5498737, essv5688812, essv5426953, essv5720223, essv5676686, essv5547758, essv6123981, essv5947753, essv5866586, essv6129418, essv5860726, essv6509723, essv5563622, essv6208971, essv5623044, essv6318877, essv6469961, essv6589726, essv5744078, essv5507102, essv6568660, essv6386200, essv5929092, essv5828693, essv5643777, essv6384313, essv5520260, essv5750729, essv6282747, essv5832808, essv6464194, essv6136312, essv5588340, essv6040524, essv5641023, essv6317898, essv6174965, essv6420005, essv6499502, essv6286017, essv5570259, essv5663577, essv6385682, essv5988820, essv6061366, essv6067448, essv5965735, essv6362179, essv6402365, essv6561782, essv6002905, essv5546184, essv6419659, essv6327409, essv6318879
SamplesNA11881, NA18964, NA12154, HG00313, NA12489, NA18861, HG00318, NA18605, NA07037, NA18530, HG00418, NA18561, HG01055, NA11918, HG00310, NA18550, HG00261, HG01079, NA18545, HG00657, NA18953, NA12828, NA18517, NA18947, NA18573, HG00139, NA18546, HG00701, HG00111, NA12776, NA07051, NA19108, NA18965, NA18559, HG00321, NA11919, NA12763, NA18624, HG00250, NA20515, HG00472, HG00583, NA12004, NA11994, HG00140, NA18622, NA18960, NA18563, NA07357, NA18623, NA18592, NA12761, NA18638, NA18959, NA18547, NA11894, NA18973, NA11995, NA18593, HG00276, NA12751, NA19190, NA19360, NA07346, NA18537, NA18620, NA18633, HG00268, NA19102, NA06986, NA19005, NA18510, HG00260, NA18558, HG00249, NA18564, HG00277, HG01351, HG01070, HG00525, HG01383, NA18579, HG00589, NA18945, NA18543, NA18940, NA10851, NA18582, HG00427, NA18552, NA19138, NA18909, NA12156, NA18577, NA19099, NA11830, NA12003, HG00281, NA18944, NA11993, NA18499, NA18571, HG00422, NA11829, HG00320, NA12717, NA18853, HG00442, HG01374, HG00137, HG00684, NA07000
Known GenesEPB41L3
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2671954
Sample Size1151
Observed Gain0
Observed Loss112
Observed Complex0

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