A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079223



Internal ID2081039
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606980
Supporting Variants
SamplesNA20332
Known GenesPCDHGA1, PCDHGA2, PCDHGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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