A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12099438



Internal ID2101254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151410222..151413066hg38UCSC Ensembl
Innerchr5:151410222..151413066hg38UCSC Ensembl
Outerchr5:151409808..151413434hg38UCSC Ensembl
chr5:150789783..150792627hg19UCSC Ensembl
Innerchr5:150789783..150792627hg19UCSC Ensembl
Outerchr5:150789369..150792995hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382845
hg192845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607177
Supporting Variants
SamplesHG04020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12099438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer