A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12085965



Internal ID2075261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144516793..144520176hg38UCSC Ensembl
Innerchr5:144516793..144520176hg38UCSC Ensembl
Outerchr5:144516583..144520374hg38UCSC Ensembl
chr5:143896356..143899739hg19UCSC Ensembl
Innerchr5:143896356..143899739hg19UCSC Ensembl
Outerchr5:143896146..143899937hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383384
hg193384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607041
Supporting Variants
SamplesHG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12085965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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