A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661076



Internal ID9927181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45575422..45578660hg38UCSC Ensembl
chr20:44204061..44207299hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383239
hg193239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5658148, essv6488307, essv6582831, essv5499767, essv6534600, essv5654012, essv6514530, essv6535941, essv5962022, essv6110267, essv6584753, essv6179577, essv6193734, essv6587537, essv5599097, essv6330771, essv6225021, essv6455441, essv6072619, essv6154944, essv5678520, essv6128056, essv5980300, essv6563692, essv6437472, essv6081232, essv6542349, essv6438331, essv5736319, essv6554443, essv5442657, essv5804266, essv6298589, essv5483166, essv6093159, essv5701684, essv5820214, essv6200367, essv6314492, essv5932947, essv5484006, essv5951230, essv6136095, essv6039837, essv6267088, essv5698420
SamplesNA12842, NA18621, HG00361, HG00100, HG01188, NA20512, HG00261, NA12813, HG00251, NA20798, NA12891, NA12282, NA12275, HG01080, NA06984, HG00182, HG00159, HG00264, NA12748, HG00188, HG00328, NA18933, HG00551, HG01102, HG01094, HG01073, NA19449, NA20534, HG01075, HG00119, NA11881, HG00734, HG00136, NA19435, HG00278, HG01357, NA19428, NA20281, HG00339, HG00329, NA20807, NA20826, NA20528, HG00147, HG01125, HG00553
Known GenesWFDC8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661076
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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