A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936975



Internal ID6565764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67280097..67295560hg38UCSC Ensembl
chr5:66575925..66591388hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3815464
hg1915464
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605335
Supporting Variants
SamplesNA20758
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936975
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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