A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864778



Internal ID10261783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:174484189..174484316hg38UCSC Ensembl
Outerchr3:174201979..174202106hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726224, esv2726223
Supporting Variants
SamplesSSM089
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)essv6864778
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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