A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606286



Internal ID6646529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112058821..112193605hg38UCSC Ensembl
chr5:111394518..111529302hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38134785
hg19134785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1124e214
Supporting Variantsessv12022020
SamplesHG02262
Known GenesEPB41L4A, EPB41L4A-AS1, SNORA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606286
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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