A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873377



Internal ID9922835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900638..108901106hg38UCSC Ensembl
Outerchr9:111662918..111663386hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738904
Supporting Variants
SamplesSSM091
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)essv6873377
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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