A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11105641



Internal ID1246344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113138602..113149770hg38UCSC Ensembl
chr3:112857449..112868617hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3811169
hg1911169
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597432
Supporting Variants
SamplesHG01102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11105641
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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