A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839800



Internal ID10236076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46631289..46632131hg38UCSC Ensembl
Outerchr22:47027186..47028028hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724445, esv2724442
Supporting Variants
SamplesSSM083
Known GenesGRAMD4
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)essv6839800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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