A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022021



Internal ID2023837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112058821..112193605hg38UCSC Ensembl
chr5:111394518..111529302hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38134785
hg19134785
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606287
Supporting Variants
SamplesNA18909
Known GenesEPB41L4A, EPB41L4A-AS1, SNORA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022021
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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