A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738278



Internal ID9972618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21195856..21214473hg38UCSC Ensembl
Outerchr9:21195855..21214472hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3818618
hg1918618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1253e201
Supporting Variantsessv6684031, essv6831331
SamplesSSM005, SSM010
Known GenesIFNA10, IFNA7
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)esv2738278
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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