A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13185886



Internal ID3187702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42714283..42718475hg38UCSC Ensembl
Innerchr8:42714313..42718445hg38UCSC Ensembl
Outerchr8:42714253..42718505hg38UCSC Ensembl
chr8:42569426..42573618hg19UCSC Ensembl
Innerchr8:42569456..42573588hg19UCSC Ensembl
Outerchr8:42569396..42573648hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384193
hg194193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617017
Supporting Variants
SamplesHG02807
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13185886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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