A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802388



Internal ID9657246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900589..108901188hg38UCSC Ensembl
Outerchr9:111662869..111663468hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738904
Supporting Variants
SamplesSSM009
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)essv6802388
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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