A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422812



Internal ID14923084
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 StatusM
Merged Variants
Supporting Variantsessv8926797, essv8926796, essv8926795, essv8926790, essv8926793, essv8926789, essv8926791, essv8926794
SamplesNA18861, NA18870, NA07357, NA19138, NA19114, NA11894, NA19108, NA19116
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)esv3422812
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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