A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725244



Internal ID9959548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47854563..47854956hg38UCSC Ensembl
Outerchr3:47896053..47896446hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714784, essv6825585
SamplesSSM080, SSM043
Known GenesMAP4
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)esv2725244
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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