A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738275



Internal ID9972615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21178606..21193342hg38UCSC Ensembl
Outerchr9:21178605..21193341hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3814737
hg1914737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915693, essv6967251, essv6919635, essv6690376, essv6894521
SamplesSSM017, SSM001, SSM016, SSM004, SSM012
Known GenesIFNA4
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)esv2738275
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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