A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853838



Internal ID9905252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143134082..143134182hg38UCSC Ensembl
Outerchr2:143891651..143891751hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720910, esv2720911
Supporting Variants
SamplesSSM087
Known GenesARHGAP15
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)essv6853838
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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