A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700067



Internal ID9769527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165483648..165485159hg38UCSC Ensembl
Outerchr2:166340158..166341669hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381512
hg191512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721070
Supporting Variants
SamplesSSM039
Known GenesCSRNP3
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)essv6700067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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