A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338818



Internal ID6561926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134910631..134915166hg38UCSC Ensembl
chr8:135922874..135927409hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg384536
hg194536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618912
Supporting Variants
SamplesNA20757
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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