A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917345



Internal ID9678439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43668985..43669186hg38UCSC Ensembl
Outerchr21:45088866..45089067hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723614, esv2723615
Supporting Variants
SamplesSSM016
Known GenesRRP1B
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)essv6917345
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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