A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11884229



Internal ID5170428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42828469..42908890hg38UCSC Ensembl
chr5:42828571..42908992hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3880422
hg1980422
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604883
Supporting Variants
SamplesNA18599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11884229
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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