A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12019362



Internal ID6652578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111267163..111298110hg38UCSC Ensembl
chr5:110602861..110633808hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3830948
hg1930948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606265
Supporting Variants
SamplesNA20803
Known GenesCAMK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12019362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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