A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819172



Internal ID9872174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900981..108901089hg38UCSC Ensembl
Outerchr9:111663261..111663369hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738904, esv2738907
Supporting Variants
SamplesSSM078
Known GenesIKBKAP
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)essv6819172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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