A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11031523



Internal ID1834037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68565375..68585960hg38UCSC Ensembl
chr3:68614526..68635111hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3820586
hg1920586
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596483
Supporting Variants
SamplesHG01704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11031523
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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