A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338820



Internal ID5679598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134910631..134915166hg38UCSC Ensembl
chr8:135922874..135927409hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg384536
hg194536
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618913
Supporting Variants
SamplesNA19080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338820
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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