A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13185899



Internal ID3187715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42718300..42735379hg38UCSC Ensembl
Innerchr8:42718800..42734879hg38UCSC Ensembl
Outerchr8:42717300..42736379hg38UCSC Ensembl
chr8:42573443..42590522hg19UCSC Ensembl
Innerchr8:42573943..42590022hg19UCSC Ensembl
Outerchr8:42572443..42591522hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3817080
hg1917080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617018
Supporting Variants
SamplesHG03066
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13185899
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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