A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725353



Internal ID9959658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:64019445..64022290hg38UCSC Ensembl
Outerchr3:64005121..64007966hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382846
hg192846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951141
SamplesSSM025
Known GenesPSMD6
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)esv2725353
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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