A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724978



Internal ID10308614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17148427..17149066hg38UCSC Ensembl
Outerchr3:17189919..17190558hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742538, essv6750993, essv6820409, essv6962404, essv6921228, essv6844317, essv6798013, essv6955652
SamplesSSM027, SSM057, SSM026, SSM003, SSM085, SSM072, SSM053, SSM010
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)esv2724978
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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