A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664575



Internal ID9583994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530112..73557818hg38UCSC Ensembl
Outerchr14:73529741..73558188hg38UCSC Ensembl
Innerchr14:73996816..74024522hg19UCSC Ensembl
Outerchr14:73996445..74024892hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828448
hg1928448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e199
Supporting Variantsessv6455885, essv6136318, essv5750429, essv6376287, essv6235133, essv6307197, essv5724077, essv5407520, essv5931630, essv5405535, essv6040780, essv5672969, essv5783019, essv5447977, essv5708899, essv5406040, essv6292290, essv6206712, essv6304726, essv6345658, essv6084371, essv5407178, essv5910419, essv5513490, essv5455092, essv6083106, essv5910024, essv6243141, essv6563236, essv6547902, essv6217037, essv5824910, essv6388812, essv5565450, essv5939278, essv6391282, essv5850594, essv5893645, essv6089043, essv5475171, essv6489639, essv5903455, essv5983651, essv6583914, essv6392073, essv5908688, essv5972883, essv5726375, essv6177593, essv6448430, essv6167834, essv5919598, essv6068997, essv6246271, essv5836072, essv6344380, essv6151587, essv6221954, essv6212043, essv6382521, essv5859686, essv6406625, essv6211681, essv5927940, essv6002003, essv5433362, essv5872387, essv6074406, essv6044964, essv5545873, essv5784683, essv6140767, essv5504361
SamplesNA18621, NA18592, NA18565, NA18561, NA18599, NA18603, NA18545, NA18530, NA18606, NA18616, NA18526, NA18633, NA18602, NA18627, NA18563, NA18550, NA18595, NA18635, NA18567, NA18558, NA18547, NA18618, NA18582, NA18611, NA18560, NA18617, NA18557, NA18539, NA18638, NA18614, NA18544, NA18605, NA18613, NA18538, NA18637, NA18579, NA18572, NA18534, NA18630, NA18548, NA18537, NA18566, NA18626, NA18553, NA18555, NA18536, NA18570, NA18634, NA18593, NA18541, NA18576, NA18546, NA18608, NA18632, NA18542, NA18535, NA18543, NA18559, NA18564, NA18615, NA18610, NA18631, NA18636, NA18609, NA18552, NA18624, NA18623, NA18612, NA18549, NA18622, NA18562, NA18577, NA18620
Known GenesACOT1, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664575
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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