A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13339111



Internal ID6448605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135980230..135983151hg38UCSC Ensembl
Innerchr8:135980251..135983130hg38UCSC Ensembl
Outerchr8:135980209..135983172hg38UCSC Ensembl
chr8:136992473..136995394hg19UCSC Ensembl
Innerchr8:136992494..136995373hg19UCSC Ensembl
Outerchr8:136992452..136995415hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg382922
hg192922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618929
Supporting Variants
SamplesNA20512
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13339111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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