A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616721



Internal ID6656917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27375902..27443884hg38UCSC Ensembl
chr8:27233419..27301401hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3867983
hg1967983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13150573
SamplesHG01596
Known GenesMIR6842, PTK2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616721
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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