A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616722



Internal ID6656918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27402184..27405336hg38UCSC Ensembl
Innerchr8:27402184..27405336hg38UCSC Ensembl
Outerchr8:27402121..27405417hg38UCSC Ensembl
chr8:27259701..27262853hg19UCSC Ensembl
Innerchr8:27259701..27262853hg19UCSC Ensembl
Outerchr8:27259638..27262934hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383153
hg193153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13150574
SamplesNA19401
Known GenesPTK2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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