A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785708



Internal ID10190620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:174484124..174484325hg38UCSC Ensembl
Outerchr3:174201914..174202115hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726224, esv2726223
Supporting Variants
SamplesSSM069
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)essv6785708
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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