A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111664



Internal ID2113480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158342782..158346045hg38UCSC Ensembl
Innerchr5:158342832..158345995hg38UCSC Ensembl
Outerchr5:158342690..158346137hg38UCSC Ensembl
chr5:157769790..157773053hg19UCSC Ensembl
Innerchr5:157769840..157773003hg19UCSC Ensembl
Outerchr5:157769698..157773145hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607327
Supporting Variants
SamplesHG01915
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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