A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725681



Internal ID10309317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99263550..99263655hg38UCSC Ensembl
Outerchr3:98982394..98982499hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847983, essv6869149
SamplesSSM090, SSM086
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)esv2725681
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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