A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726311



Internal ID10309947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184670638..184670780hg38UCSC Ensembl
Outerchr3:184388426..184388568hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914526, essv6973615, essv6955892, essv6707845
SamplesSSM041, SSM029, SSM026, SSM016
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)esv2726311
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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