A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12083784



Internal ID5305478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143549993..143555447hg38UCSC Ensembl
Innerchr5:143550041..143555400hg38UCSC Ensembl
Outerchr5:143549946..143555495hg38UCSC Ensembl
chr5:142929558..142935012hg19UCSC Ensembl
Innerchr5:142929606..142934965hg19UCSC Ensembl
Outerchr5:142929511..142935060hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385455
hg195455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607022
Supporting Variants
SamplesNA18856
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12083784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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