A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238937



Internal ID652677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80268872..80272268hg38UCSC Ensembl
chr8:81181107..81184503hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383397
hg193397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617774
Supporting Variants
SamplesHG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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