A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738279



Internal ID9972619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21211585..21233714hg38UCSC Ensembl
Outerchr9:21211584..21233713hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3822130
hg1922130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919636, essv6799682, essv6890841, essv6870368, essv6944343, essv6866497
SamplesSSM097, SSM023, SSM090, SSM089, SSM017, SSM072
Known GenesIFNA16, IFNA17
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)esv2738279
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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