A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937604



Internal ID9696410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506515..45507472hg38UCSC Ensembl
Outerchr21:46926429..46927386hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723777, esv2723778
Supporting Variants
SamplesSSM021
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)essv6937604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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