A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915697



Internal ID10026704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:22057956..22058112hg38UCSC Ensembl
Outerchr9:22057955..22058111hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738285, esv2738283, esv2738282
Supporting Variants
SamplesSSM016
Known GenesCDKN2B-AS1
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)essv6915697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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