A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962602



Internal ID10068426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171502946..171503010hg38UCSC Ensembl
Outerchr3:171220735..171220799hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726202, esv2726203, esv2726201
Supporting Variants
SamplesSSM027
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)essv6962602
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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