A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632516



Internal ID7019326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66650981..66744696hg38UCSC Ensembl
Innerchr13:66651016..66744661hg38UCSC Ensembl
Outerchr13:66650946..66744731hg38UCSC Ensembl
chr13:67225113..67318828hg19UCSC Ensembl
Innerchr13:67225148..67318793hg19UCSC Ensembl
Outerchr13:67225078..67318863hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3893716
hg1993716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv341e214
Supporting Variantsessv14778092
SamplesNA18592
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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