A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632506



Internal ID7019316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66389832..66391730hg38UCSC Ensembl
Innerchr13:66389832..66391730hg38UCSC Ensembl
Outerchr13:66389622..66391935hg38UCSC Ensembl
chr13:66963964..66965862hg19UCSC Ensembl
Innerchr13:66963964..66965862hg19UCSC Ensembl
Outerchr13:66963754..66966067hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg381899
hg191899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14777515, essv14777516, essv14777517, essv14777518
SamplesHG01855, HG02078, HG02016, HG02131
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632506
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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