A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116490



Internal ID2118306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160103558..160271703hg38UCSC Ensembl
chr5:159530565..159698710hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38168146
hg19168146
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607364
Supporting Variants
SamplesHG01528
Known GenesCCNJL, FABP6, PWWP2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116490
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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