A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606981



Internal ID6647223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141341467..141345266hg38UCSC Ensembl
chr5:140721034..140724833hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079224
SamplesNA18939
Known GenesPCDHGA1, PCDHGA2, PCDHGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606981
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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