A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6856391



Internal ID10254234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:22057945..22058046hg38UCSC Ensembl
Outerchr9:22057944..22058045hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738285, esv2738283, esv2738282
Supporting Variants
SamplesSSM087
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)essv6856391
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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