A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8961644



Internal ID14213767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67121147..67121201hg38UCSC Ensembl
Innerchr13:67121169..67121177hg38UCSC Ensembl
Outerchr13:67121115..67121231hg38UCSC Ensembl
chr13:67695279..67695333hg19UCSC Ensembl
Innerchr13:67695301..67695309hg19UCSC Ensembl
Outerchr13:67695247..67695363hg19UCSC Ensembl
chr13:66593280..66593334hg18UCSC Ensembl
Innerchr13:66593310..66593302hg18UCSC Ensembl
Outerchr13:66593248..66593364hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38206
hg19206
hg18206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414442
Supporting Variants
SamplesNA18577
Known GenesPCDH9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8961644
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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