A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617471



Internal ID7004356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65789712..65806822hg38UCSC Ensembl
chr8:66701947..66719057hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3817111
hg1917111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13214214
SamplesNA21126
Known GenesPDE7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617471
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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