A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673962



Internal ID9940067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68608332..68609286hg38UCSC Ensembl
Outerchr1:68608175..68609439hg38UCSC Ensembl
Innerchr1:69074015..69074969hg19UCSC Ensembl
Outerchr1:69073858..69075122hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6282004, essv6105946, essv5850196, essv6474216, essv5728701, essv6036500
SamplesNA11830, NA18486, NA07347, NA18572, NA19225, NA18858
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673962
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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