A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725280



Internal ID10308916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52898444..52898647hg38UCSC Ensembl
Outerchr3:52932460..52932663hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821706, essv6836703, essv6679704, essv6864657, essv6825589, essv6781461, essv6854088, essv6722539, essv6711136
SamplesSSM083, SSM045, SSM079, SSM087, SSM042, SSM089, SSM033, SSM068, SSM080
Known Genes
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)esv2725280
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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