A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672436



Internal ID9591855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73540266..73572175hg38UCSC Ensembl
chr14:74006970..74038879hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3831910
hg1931910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6433399, essv5938569, essv6026731, essv5690655, essv5914635, essv6393008, essv6464146, essv6511592, essv6478721, essv6209970, essv5682165, essv5738501, essv6129925, essv5719050, essv6129434, essv6045410, essv5639615, essv6233612, essv5680268, essv6315560, essv5457638, essv6367987, essv5408802, essv5462134, essv6364435, essv5519235, essv5462772, essv6042865, essv6261934, essv6017447, essv6151508, essv5594225, essv5806169, essv5549264, essv5997243, essv5861949, essv5652442, essv6553188, essv5456207, essv6495326, essv5555734, essv5480542, essv5528753, essv5885927, essv6249587, essv6334905, essv5630970, essv6249827, essv5851463, essv6132128, essv6117684, essv5542193, essv6435532, essv6419588, essv5694505, essv6068543, essv5415115, essv5980851, essv6190522, essv6270339, essv5902273, essv6096166, essv6228997, essv5718675, essv6367754, essv6108617, essv6455538, essv5896178, essv5720077, essv6502216, essv6593816, essv6249585, essv5579832, essv6039475, essv5600423, essv5410591, essv6375833, essv5633717, essv6208284, essv5409162, essv6241627, essv5669730, essv6377348, essv6285092, essv5846389, essv6549971, essv5853916, essv5685579, essv6280566, essv6246184, essv5694283, essv5595940, essv6015301, essv6220436
SamplesNA19012, HG01515, NA12154, HG00152, HG01518, NA12750, NA07037, HG01250, HG01072, HG01052, NA12342, HG00127, HG00328, HG01055, NA07056, HG00186, NA20796, NA20508, HG00160, NA06989, HG01492, HG00148, HG00553, HG01204, NA19682, NA12341, HG00156, NA19776, HG00247, HG00269, NA20770, HG00244, HG01550, NA19463, NA19914, HG00158, HG00242, HG00346, NA19917, NA18622, HG01048, NA19722, HG00231, HG00315, NA11843, HG00264, HG00243, NA12777, NA12144, HG00133, HG00114, NA12751, NA19676, HG00267, HG01111, NA19786, HG00124, NA07346, NA19771, NA18986, NA20344, HG00176, NA19713, HG01073, HG01069, NA19707, HG00377, HG01149, HG01094, NA20534, NA12749, NA20332, NA20799, NA06984, HG00311, HG01390, NA19452, HG00281, NA19063, NA12399, NA20812, HG01366, NA12045, NA20768, HG00119, NA20528, HG01102, NA20524, HG00143, NA20502, HG00345, NA19750, NA19007, HG00361
Known GenesACOT1, ACOT2, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672436
Frequency
Sample Size1151
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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