A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617010



Internal ID7003896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42419628..42426318hg38UCSC Ensembl
Innerchr8:42419628..42426318hg38UCSC Ensembl
Outerchr8:42419128..42426818hg38UCSC Ensembl
chr8:42277146..42283836hg19UCSC Ensembl
Innerchr8:42277146..42283836hg19UCSC Ensembl
Outerchr8:42276646..42284336hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386691
hg196691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13185806
SamplesHG01841
Known GenesSLC20A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617010
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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