A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933088



Internal ID9694443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39033661..39033974hg38UCSC Ensembl
Outerchr22:39429666..39429979hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724242, esv2724243, esv2724244
Supporting Variants
SamplesSSM020
Known Genes
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)essv6933088
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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