A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13078794



Internal ID390254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6178075..6381571hg38UCSC Ensembl
chr8:6035596..6239092hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38203497
hg19203497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616072
Supporting Variants
SamplesHG00114
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13078794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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