A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926795



Internal ID13081973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141407486..141407500hg38UCSC Ensembl
Innerchr5:141407484..141407500hg38UCSC Ensembl
Outerchr5:141407472..141407514hg38UCSC Ensembl
chr5:140787053..140787067hg19UCSC Ensembl
Innerchr5:140787051..140787067hg19UCSC Ensembl
Outerchr5:140787039..140787081hg19UCSC Ensembl
chr5:140767237..140767251hg18UCSC Ensembl
Innerchr5:140767251..140767235hg18UCSC Ensembl
Outerchr5:140767223..140767265hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3422812
Supporting Variants
SamplesNA07357
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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