A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606985



Internal ID6647227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141389770..141397963hg38UCSC Ensembl
chr5:140769337..140777530hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388194
hg198194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079233
SamplesNA19916
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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