A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725239



Internal ID9959543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47021945..47022101hg38UCSC Ensembl
Outerchr3:47063435..47063591hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793863
SamplesSSM071
Known GenesSETD2
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)esv2725239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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