A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664314



Internal ID9930419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217809202..217809505hg38UCSC Ensembl
Outerchr2:217809148..217809555hg38UCSC Ensembl
Innerchr2:218673925..218674228hg19UCSC Ensembl
Outerchr2:218673871..218674278hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5642205, essv5431745, essv5529808, essv5905822, essv6356407, essv5429471, essv6267104, essv6386248, essv6565647, essv6500364, essv6394958, essv6551212, essv6273947, essv5947560, essv5979986, essv5947632, essv6350453, essv6295643, essv5561538, essv6560713, essv5744327, essv5964328, essv5490565, essv6115429, essv6151530, essv6136147, essv6556183, essv6409965, essv6109734, essv5690893, essv5522932, essv5591723, essv5635272, essv5891102, essv6281237, essv5634401, essv6491205, essv6440479, essv6002522, essv5746058, essv5820909, essv6043106, essv5962204, essv6229677, essv6436721, essv5964366, essv6146446, essv5431600, essv5753190, essv5434476, essv5584565, essv6303238, essv6130912, essv6256088, essv5553074, essv5583085, essv6040578, essv6378955, essv6263980, essv5402167, essv6314710, essv5767551
SamplesNA18502, HG01441, NA12717, HG00536, HG01359, HG00187, NA18565, HG01079, HG00318, NA18530, NA19443, NA18519, NA19319, HG01488, HG00702, NA18923, HG01492, HG00634, HG00610, NA11992, HG00369, NA20287, HG00185, NA18964, HG00158, NA20541, NA20278, NA18977, NA19731, NA19172, NA18990, NA19789, NA12748, HG00557, NA18933, HG00701, NA19455, NA18910, HG00324, HG00284, HG00331, NA18856, NA18853, NA20282, HG00276, NA19452, NA19318, NA20765, HG00124, NA19834, NA18559, HG00237, NA19786, NA20348, HG01055, HG00698, NA19758, HG01125, NA19463, HG00437, NA18562, NA18620
Known GenesTNS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664314
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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