A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666968



Internal ID9586387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739371..44741650hg38UCSC Ensembl
chr22:45135251..45137530hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382280
hg192280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv837e199
Supporting Variantsessv6471700, essv6235547, essv6184479, essv5629983, essv6575356, essv6083250, essv5502630, essv5733312, essv6431396, essv6050413, essv6503286, essv5885494, essv6435321, essv6242037, essv6577437, essv6570669, essv6364469, essv5736490, essv5706351, essv5832544, essv6327250, essv5900921, essv5806675, essv6568840, essv6558871, essv6182449, essv6038330, essv6334841, essv5928277, essv5838460, essv6287032, essv6389902, essv5743028, essv6253532, essv6142950, essv5522781, essv5705733, essv5681846, essv6032421, essv5901142, essv6583944, essv6076165, essv6549119, essv6176065, essv6056706, essv5700265, essv6253429, essv5512126, essv6246232, essv5755573, essv5681029, essv5966993, essv5403556, essv5553703, essv5502290, essv5980100, essv6590447, essv5741082, essv5721092, essv6137284, essv6579661, essv6068469, essv6343318, essv5722676, essv6150939, essv5534627, essv6581058, essv6290766, essv6419534, essv5945604, essv5759965, essv6334485, essv6057291, essv5703699, essv6395828, essv6523901, essv6058396, essv5511849, essv5766931, essv6032966, essv6512097, essv6445100, essv5616089, essv5859762, essv6536266, essv5577235, essv5771739, essv5433974, essv6324278, essv5536490, essv5807235, essv6363155, essv6373255, essv6218768, essv6029192, essv6530853, essv5583954, essv5845183, essv6051588, essv6158298, essv5955175, essv6319939, essv6458817, essv5634449, essv6568823, essv5610062, essv5456482, essv6136523, essv5644172, essv6534431, essv6102777, essv6373009, essv6462598, essv5878744, essv5946931, essv5686962, essv5732901, essv6014245, essv6270749, essv5518758, essv5888612, essv5805537, essv5969567, essv6589756, essv6482102, essv5932666, essv5606086, essv6519914, essv6009087, essv5738799
SamplesHG01173, NA19703, NA19055, HG00671, NA19066, HG01359, HG00559, NA19914, NA18565, HG01066, NA19092, HG01465, NA18545, NA19819, NA18596, HG00566, HG01051, NA19068, HG00641, NA19076, NA19382, NA18489, NA20589, NA19728, NA19678, NA18923, NA18635, NA18619, NA18558, NA19062, HG01083, HG00270, NA19384, NA20291, NA19130, NA19079, HG00590, NA19404, HG01069, HG00683, HG00236, NA18868, HG01072, NA19235, NA18617, NA19317, NA12889, HG00427, HG00637, HG00159, NA18867, HG00464, HG01124, NA18605, NA19247, NA18613, HG01187, NA18934, NA19077, NA19347, HG00732, HG01095, HG00475, NA19663, NA19236, NA18637, NA19788, NA18630, NA20344, NA19654, NA19461, NA19000, NA19449, HG01197, NA18499, NA18856, HG01101, NA19009, NA19452, HG00704, NA19682, NA18523, HG00463, NA19469, NA18536, HG01107, NA19012, NA19401, NA19375, NA19390, NA19834, NA19321, NA19712, NA19434, NA19749, NA19747, NA19473, NA18628, NA18950, HG00580, HG00734, NA19444, NA19380, NA19010, HG00473, HG01108, HG00418, NA19085, NA18615, HG00620, NA19398, NA19078, HG00614, NA19223, HG00421, NA19713, NA12830, NA18873, NA19213, NA18983, HG00274, HG00595, NA18989, NA18488, NA19758, NA19463, NA18549, NA18622, NA18487, HG01437
Known GenesPRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666968
Frequency
Sample Size1151
Observed Gain0
Observed Loss130
Observed Complex0
Frequencyn/a


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