A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617162



Internal ID7004048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50154477..50461507hg38UCSC Ensembl
Innerchr8:50154477..50461507hg38UCSC Ensembl
Outerchr8:50153977..50462007hg38UCSC Ensembl
chr8:51067037..51374067hg19UCSC Ensembl
Innerchr8:51067037..51374067hg19UCSC Ensembl
Outerchr8:51066537..51374567hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38307031
hg19307031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13196948
SamplesNA18602
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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