A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726205



Internal ID10309841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171503129..171503404hg38UCSC Ensembl
Outerchr3:171220918..171221193hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807902, essv6813740, essv6864777
SamplesSSM075, SSM089, 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)esv2726205
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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