A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9955149



Internal ID6580442
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586273
Supporting Variants
SamplesHG00708
Known GenesJAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9955149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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