A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11963829



Internal ID4272286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:85540443..85608750hg38UCSC Ensembl
chr5:84836261..84904568hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3868308
hg1968308
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605683
Supporting Variants
SamplesHG03837
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11963829
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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