A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505953



Internal ID4705686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113432844..113447937hg38UCSC Ensembl
chr6:113754046..113769139hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3815094
hg1915094
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610415
Supporting Variants
SamplesHG04225
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505953
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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