A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724926



Internal ID9959228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11909461..11914611hg38UCSC Ensembl
Outerchr3:11950935..11956085hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg385151
hg195151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872112, essv6869102
SamplesSSM090, SSM091
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)esv2724926
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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