A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696953



Internal ID9762963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506557..45507003hg38UCSC Ensembl
Outerchr21:46926471..46926917hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723777, esv2723778
Supporting Variants
SamplesSSM037
Known GenesCOL18A1
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)essv6696953
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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