A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742558



Internal ID9805393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47449195..47451936hg38UCSC Ensembl
Outerchr3:47490685..47493426hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725241
Supporting Variants
SamplesSSM053
Known GenesSCAP
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)essv6742558
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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