A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275588



Internal ID1808
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586106
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)esv275588
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer