A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586106



Internal ID999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64963520..64964291hg38UCSC Ensembl
Outerchr1:64961911..64969368hg38UCSC Ensembl
Innerchr1:65429203..65429974hg19UCSC Ensembl
Outerchr1:65427594..65435051hg19UCSC Ensembl
Innerchr1:65201791..65202562hg18UCSC Ensembl
Outerchr1:65200182..65207639hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387458
hg197458
hg187458
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275588
Supporting Variants
Samples
Known GenesJAK1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586106
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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