A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618929



Internal ID7005811
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13339111
SamplesNA20512
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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