A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667699



Internal ID9645202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23502457..23503077hg38UCSC Ensembl
Outerchr22:23844644..23845264hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724054
Supporting Variants
SamplesSSM004
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)essv6667699
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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