A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022004



Internal ID2023820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111756034..111914798hg38UCSC Ensembl
chr5:111091731..111250495hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38158765
hg19158765
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606278
Supporting Variants
SamplesNA20803
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022004
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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