A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11797701



Internal ID397299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5361082..5387813hg38UCSC Ensembl
chr5:5361195..5387926hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3826732
hg1926732
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603898
Supporting Variants
SamplesHG00117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11797701
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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