A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669263



Internal ID9935368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67032417..67042528hg38UCSC Ensembl
chr17:65028533..65038644hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810112
hg1910112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5547385
SamplesNA18566
Known GenesCACNG4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669263
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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