A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738905



Internal ID9973246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900649..108900758hg38UCSC Ensembl
Outerchr9:111662929..111663038hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819171
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)esv2738905
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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