A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14778123



Internal ID4779939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66766949..66827916hg38UCSC Ensembl
chr13:67341081..67402048hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3860968
hg1960968
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632525
Supporting Variants
SamplesHG02253
Known GenesPCDH9, PCDH9-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14778123
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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