A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586273



Internal ID6626586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64946822..64948075hg38UCSC Ensembl
Innerchr1:64946822..64948075hg38UCSC Ensembl
Outerchr1:64946592..64948312hg38UCSC Ensembl
chr1:65412505..65413758hg19UCSC Ensembl
Innerchr1:65412505..65413758hg19UCSC Ensembl
Outerchr1:65412275..65413995hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9955148, essv9955149, essv9955150
SamplesHG00662, HG01801, HG00708
Known GenesJAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586273
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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