A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726007



Internal ID10309643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143978596..143978748hg38UCSC Ensembl
Outerchr3:143697438..143697590hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962566, essv6833161
SamplesSSM027, SSM082
Known GenesC3orf58
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)esv2726007
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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