A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674879



Internal ID9940984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73073483..73263988hg38UCSC Ensembl
Outerchr1:73073326..73264141hg38UCSC Ensembl
Innerchr1:73539166..73729671hg19UCSC Ensembl
Outerchr1:73539009..73729824hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38190816
hg19190816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6003294, essv6521608
SamplesHG01052, HG01051
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674879
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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