A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843688



Internal ID9896114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33680190..33680686hg38UCSC Ensembl
Outerchr22:34076176..34076672hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724166
Supporting Variants
SamplesSSM084
Known GenesLARGE
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)essv6843688
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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