A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12042799



Internal ID6483486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121817591..121851511hg38UCSC Ensembl
Innerchr5:121817622..121851481hg38UCSC Ensembl
Outerchr5:121817561..121851542hg38UCSC Ensembl
chr5:121153286..121187206hg19UCSC Ensembl
Innerchr5:121153317..121187176hg19UCSC Ensembl
Outerchr5:121153256..121187237hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3833921
hg1933921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606581
Supporting Variants
SamplesNA20527
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12042799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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