A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111027



Internal ID3276146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157111057..157113493hg38UCSC Ensembl
Innerchr5:157111057..157113493hg38UCSC Ensembl
Outerchr5:157110800..157113796hg38UCSC Ensembl
chr5:156538068..156540504hg19UCSC Ensembl
Innerchr5:156538068..156540504hg19UCSC Ensembl
Outerchr5:156537811..156540807hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607310
Supporting Variants
SamplesHG02890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111027
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