A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662281



Internal ID9928386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19605689..19619390hg38UCSC Ensembl
Outerchr12:19605652..19619440hg38UCSC Ensembl
Innerchr12:19758623..19772324hg19UCSC Ensembl
Outerchr12:19758586..19772374hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3813789
hg1913789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6336401
SamplesNA19350
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662281
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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