A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606980



Internal ID6647222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141341467..141345266hg38UCSC Ensembl
chr5:140721034..140724833hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079223
SamplesNA20332
Known GenesPCDHGA1, PCDHGA2, PCDHGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer