A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6760659



Internal ID9821189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900570..108901174hg38UCSC Ensembl
Outerchr9:111662850..111663454hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738904
Supporting Variants
SamplesSSM061
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)essv6760659
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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