A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725900



Internal ID10309536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129161126..129161381hg38UCSC Ensembl
Outerchr3:128879969..128880224hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869170, essv6711193, essv6886433
SamplesSSM042, SSM090, SSM096
Known GenesISY1, ISY1-RAB43
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)esv2725900
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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