A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827189



Internal ID10227952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:25693246..25693482hg38UCSC Ensembl
Outerchr9:25693244..25693480hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738314, esv2738313
Supporting Variants
SamplesSSM080
Known Genes
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)essv6827189
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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