A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725680



Internal ID10309316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99263456..99263668hg38UCSC Ensembl
Outerchr3:98982300..98982512hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903073, essv6770128, essv6847983, essv6745369, essv6947105, essv6739346, essv6693435, essv6869149, essv6938277
SamplesSSM024, SSM065, SSM013, SSM090, SSM086, SSM037, SSM022, SSM055, SSM052
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)esv2725680
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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