A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703767



Internal ID10115116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42477199..42477345hg38UCSC Ensembl
Outerchr21:43897309..43897455hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723549, esv2723548
Supporting Variants
SamplesSSM039
Known GenesRSPH1
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)essv6703767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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