A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11961622



Internal ID3642813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84713401..84820752hg38UCSC Ensembl
chr5:84009219..84116570hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38107352
hg19107352
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605656
Supporting Variants
SamplesHG03238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11961622
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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