A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740887



Internal ID10295003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119529986..119592872hg38UCSC Ensembl
Outerchr1:120072609..120135495hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862887
hg1962887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32e201
Supporting Variantsessv6686226
SamplesSSM035
Known GenesHSD3BP4
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)esv2740887
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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