A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671749



Internal ID9591168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64946994..64948017hg38UCSC Ensembl
Outerchr1:64946819..64948205hg38UCSC Ensembl
Innerchr1:65412677..65413700hg19UCSC Ensembl
Outerchr1:65412502..65413888hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5848816, essv5686233
SamplesHG00662, HG00708
Known GenesJAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671749
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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