A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660478



Internal ID9579897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248576415..248634721hg38UCSC Ensembl
Outerchr1:248576044..248635091hg38UCSC Ensembl
Innerchr1:248739716..248798022hg19UCSC Ensembl
Outerchr1:248739345..248798392hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859048
hg1959048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5766754, essv5553178, essv6320189, essv5968857, essv5875751, essv5735529, essv6273469, essv6460854, essv5958711, essv6206463, essv6219184, essv6547588, essv6557964, essv6403402, essv5511980, essv6378035, essv5932294, essv5850014, essv6360990, essv5773273, essv6597944, essv5428214, essv5661497, essv6456297, essv6131583, essv6093597, essv6037104, essv6266769, essv5859158, essv5529133, essv6556302, essv5606535, essv6411590, essv6033266, essv6416824, essv6061216, essv6075866, essv6121571, essv6361408, essv6507857, essv5497446, essv6365019, essv5756046, essv5862637, essv6342772, essv6464570
SamplesNA18924, NA18508, NA18917, NA18504, NA18510, NA19107, NA19171, NA18519, NA19119, NA18923, NA19131, NA19197, NA19138, NA18498, NA19130, NA18868, NA19137, NA19159, NA18520, NA18867, NA19200, NA19247, NA18934, NA19152, NA18933, NA19236, NA18516, NA18871, NA18499, NA18856, NA19099, NA19257, NA18523, NA19160, NA18909, NA18517, NA19144, NA19248, NA19223, NA19102, NA18873, NA19116, NA19213, NA18505, NA19129, NA18522
Known GenesOR2T10, OR2T11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660478
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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