A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6050012



Internal ID9027415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66823284..66825790hg38UCSC Ensembl
Outerchr13:66822913..66826160hg38UCSC Ensembl
Innerchr13:67397416..67399922hg19UCSC Ensembl
Outerchr13:67397045..67400292hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660269
Supporting Variants
SamplesHG00336
Known GenesPCDH9, PCDH9-AS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6050012
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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