A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12008534



Internal ID2315839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106474229..106562184hg38UCSC Ensembl
Innerchr5:106474229..106562184hg38UCSC Ensembl
Outerchr5:106473729..106562684hg38UCSC Ensembl
chr5:105809930..105897885hg19UCSC Ensembl
Innerchr5:105809930..105897885hg19UCSC Ensembl
Outerchr5:105809430..105898385hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3887956
hg1987956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606173
Supporting Variants
SamplesHG02061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12008534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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