A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914526



Internal ID10025649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184670672..184670854hg38UCSC Ensembl
Outerchr3:184388460..184388642hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726311
Supporting Variants
SamplesSSM016
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)essv6914526
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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