A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664067



Internal ID9930172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136660..35146366hg38UCSC Ensembl
Outerchr14:35136239..35146786hg38UCSC Ensembl
Innerchr14:35605866..35615572hg19UCSC Ensembl
Outerchr14:35605445..35615992hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3810548
hg1910548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv390e199
Supporting Variantsessv6584981, essv5480459, essv5462814, essv6139171, essv5870053, essv6453763, essv6303477, essv5454936, essv5694972, essv6564744, essv6126317, essv5558337, essv5994693, essv6122839, essv6107749, essv5520163, essv5662849, essv5692567, essv5765283, essv6383982, essv6505113, essv5920921, essv5542934, essv5578785, essv6371302, essv6230836, essv6243454, essv5947705, essv5985481, essv6397484, essv6474731, essv6283200, essv5793826, essv6505145, essv6510815, essv5861687, essv5969292, essv5752692, essv6413459, essv6351058, essv5948941, essv5614222, essv5715078, essv5736839, essv5650931, essv6438119, essv6101841, essv5835932, essv6195840, essv6243349, essv5590590, essv5468674, essv5431674, essv5684685, essv6129624, essv5420130, essv5627441, essv6353426, essv6367642, essv6029663, essv6143219, essv6468176, essv5544994, essv5823463, essv5878593, essv5951977, essv5868316, essv5692134, essv5670328, essv6550912, essv6467281, essv6400171
SamplesHG01356, HG01462, NA18621, NA18592, HG01359, NA18599, HG01465, NA18545, NA18596, HG01456, NA18530, NA18616, NA18526, NA18602, HG01140, NA18627, NA18563, HG01250, HG01350, NA18550, HG01366, HG01351, HG01488, NA18635, NA18558, NA18547, NA18618, NA18574, NA18582, HG01354, NA18571, NA18560, NA18557, NA18539, NA18638, HG01124, HG01353, HG01136, NA18605, NA18637, HG01149, NA18534, NA18630, NA18548, NA18537, NA18566, NA18573, NA18532, NA18553, NA18555, NA18570, NA18634, NA18541, HG01148, NA18632, NA18543, NA18628, HG01357, HG01137, NA18615, NA18610, HG01489, NA18631, NA18609, NA18552, HG01251, NA18624, NA18623, NA18612, NA18622, HG01437, NA18562
Known GenesKIAA0391
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664067
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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