A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669647



Internal ID9741129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166201502..166201564hg38UCSC Ensembl
Outerchr2:167058012..167058074hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721083, esv2721082
Supporting Variants
SamplesSSM031
Known GenesSCN9A
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)essv6669647
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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