A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075896



Internal ID5842560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138729832..138741180hg38UCSC Ensembl
Innerchr5:138730332..138740680hg38UCSC Ensembl
Outerchr5:138728832..138742180hg38UCSC Ensembl
chr5:138065521..138076869hg19UCSC Ensembl
Innerchr5:138066021..138076369hg19UCSC Ensembl
Outerchr5:138064521..138077869hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811349
hg1911349
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606929
Supporting Variants
SamplesNA19213
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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