A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669251



Internal ID9935356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11666781..11668022hg38UCSC Ensembl
chr20:11647429..11648670hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6068780, essv5465479, essv5505977, essv5581058, essv5568475, essv5829983, essv6382982, essv5854002, essv6113163, essv5967903, essv6455736, essv5615387, essv6250647, essv5634482, essv6266651, essv5712659, essv6412980, essv5396582, essv5524961, essv5525042, essv5632274, essv5958159, essv6366129, essv5836693, essv6035318, essv5460143, essv6491653, essv5458211, essv5863874, essv6576615, essv6388952, essv5511411, essv6099270, essv6423045, essv6076573, essv6055591, essv6529884, essv5856490, essv5857869, essv5832576, essv5716965, essv5730933
SamplesNA11829, NA11933, HG00151, NA20813, HG00640, HG00367, HG00179, NA20806, HG01140, HG00337, HG00271, HG00641, NA20756, HG01492, NA20540, HG01365, HG00334, NA12275, HG01519, HG00309, HG00637, HG00338, HG00178, NA20757, HG00260, NA12342, NA20809, NA20521, NA19663, HG00344, HG00284, NA20581, NA18856, NA12043, HG00734, NA19334, NA20778, NA20510, HG00280, NA19129, HG01125, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669251
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer