A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668699



Internal ID9588118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51840817..51845159hg38UCSC Ensembl
chr10:53600577..53604919hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg384343
hg194343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5642968
SamplesNA20769
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668699
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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