A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967251



Internal ID9644712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21182859..21195024hg38UCSC Ensembl
Outerchr9:21182858..21195023hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3812166
hg1912166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738275, esv2738274
Supporting Variants
SamplesSSM004
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)essv6967251
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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