A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14014360



Internal ID4016176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7515685..7685956hg38UCSC Ensembl
chr11:7536916..7707187hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38170272
hg19170272
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625293
Supporting Variants
SamplesNA11933
Known GenesCYB5R2, PPFIBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14014360
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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