A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726203



Internal ID10309839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171502942..171503408hg38UCSC Ensembl
Outerchr3:171220731..171221197hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962602, essv6833181, essv6807902, essv6955876, essv6813740, essv6854240, essv6889584, essv6840595, essv6864777, essv6864776, essv6848093, essv6849743
SamplesSSM027, SSM075, SSM011, SSM087, SSM097, SSM084, SSM026, SSM089, SSM086, SSM082, SSM077
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)esv2726203
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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