A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6167842



Internal ID9323531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170040686..170040945hg38UCSC Ensembl
chr5:169467690..169467949hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678882
Supporting Variants
SamplesNA18517
Known GenesDOCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6167842
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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