A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12086945



Internal ID4103129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145381463..145407534hg38UCSC Ensembl
Innerchr5:145381464..145407533hg38UCSC Ensembl
Outerchr5:145381462..145407535hg38UCSC Ensembl
chr5:144761026..144787097hg19UCSC Ensembl
Innerchr5:144761027..144787096hg19UCSC Ensembl
Outerchr5:144761025..144787098hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826072
hg1926072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607062
Supporting Variants
SamplesHG03727
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12086945
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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