A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14778307



Internal ID6795856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67200344..67213265hg38UCSC Ensembl
Innerchr13:67200344..67213265hg38UCSC Ensembl
Outerchr13:67199844..67213765hg38UCSC Ensembl
chr13:67774476..67787397hg19UCSC Ensembl
Innerchr13:67774476..67787397hg19UCSC Ensembl
Outerchr13:67773976..67787897hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3812922
hg1912922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632536
Supporting Variants
SamplesNA20888
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14778307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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