A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906030



Internal ID9669758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33239828..33240024hg38UCSC Ensembl
Outerchr21:34612133..34612329hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723349, esv2723351
Supporting Variants
SamplesSSM013
Known GenesIFNAR2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6906030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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