A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199996



Internal ID938638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:161294536..161333941hg38UCSC Ensembl
chr3:161012324..161051729hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3839406
hg1939406
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598404
Supporting Variants
SamplesHG00560
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199996
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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