A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303542



Internal ID15150490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67121155..67121156hg38UCSC Ensembl
Innerchr13:67121099..67121212hg38UCSC Ensembl
Outerchr13:67121098..67121213hg38UCSC Ensembl
chr13:67695287..67695288hg19UCSC Ensembl
Innerchr13:67695231..67695344hg19UCSC Ensembl
Outerchr13:67695230..67695345hg19UCSC Ensembl
chr13:66593288..66593289hg18UCSC Ensembl
Innerchr13:66593345..66593232hg18UCSC Ensembl
Outerchr13:66593231..66593346hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38206
hg19206
hg18206
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762340
SamplesNA18577
Known GenesPCDH9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303542
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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