A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214208



Internal ID4217227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65522729..65526824hg38UCSC Ensembl
chr8:66434964..66439059hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg384096
hg194096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617467
Supporting Variants
SamplesHG03792
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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