A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674039



Internal ID9593458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216200476..216204147hg38UCSC Ensembl
Outerchr1:216200319..216204300hg38UCSC Ensembl
Innerchr1:216373818..216377489hg19UCSC Ensembl
Outerchr1:216373661..216377642hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383982
hg193982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5867314
SamplesHG00251
Known GenesUSH2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674039
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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