A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14778095



Internal ID5159325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66666948..66735707hg38UCSC Ensembl
chr13:67241080..67309839hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3868760
hg1968760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632518
Supporting Variants
SamplesNA18592
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14778095
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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