A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616092



Internal ID6656289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6419551..6431875hg38UCSC Ensembl
chr8:6277072..6289396hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812325
hg1912325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13080370
SamplesHG03805
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616092
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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