A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11112509



Internal ID6872185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:117147928..117238331hg38UCSC Ensembl
chr3:116866775..116957178hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3890404
hg1990404
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597512
Supporting Variants
SamplesNA21097
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11112509
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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