A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12047928



Internal ID1613987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125080897..125289297hg38UCSC Ensembl
chr5:124416590..124624990hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38208401
hg19208401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606649
Supporting Variants
SamplesHG01495
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12047928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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