A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288897



Internal ID2613690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113605928..113609426hg38UCSC Ensembl
chr8:114618157..114621655hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383499
hg193499
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618474
Supporting Variants
SamplesHG02314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288897
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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