A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698564



Internal ID9648723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231249532..231250244hg38UCSC Ensembl
Outerchr2:232114245..232114957hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721612
Supporting Variants
SamplesSSM006
Known GenesARMC9
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)essv6698564
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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