A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738819



Internal ID9973160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98214244..98214550hg38UCSC Ensembl
Outerchr9:100976526..100976832hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694042, essv6667989
SamplesSSM001, SSM030
Known GenesTBC1D2
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)esv2738819
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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