A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661097



Internal ID9580516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42068257..42073541hg38UCSC Ensembl
Outerchr13:42068220..42073591hg38UCSC Ensembl
Innerchr13:42642393..42647677hg19UCSC Ensembl
Outerchr13:42642356..42647727hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg385372
hg195372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5919814
SamplesNA19172
Known GenesDGKH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661097
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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