A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12008463



Internal ID6177126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106240400..106255179hg38UCSC Ensembl
Innerchr5:106240401..106255178hg38UCSC Ensembl
Outerchr5:106240399..106255180hg38UCSC Ensembl
chr5:105576101..105590880hg19UCSC Ensembl
Innerchr5:105576102..105590879hg19UCSC Ensembl
Outerchr5:105576100..105590881hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3814780
hg1914780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606166
Supporting Variants
SamplesNA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12008463
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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