A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12089729



Internal ID2091545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147001088..147012763hg38UCSC Ensembl
Innerchr5:147001122..147012729hg38UCSC Ensembl
Outerchr5:147001054..147012797hg38UCSC Ensembl
chr5:146380651..146392326hg19UCSC Ensembl
Innerchr5:146380685..146392292hg19UCSC Ensembl
Outerchr5:146380617..146392360hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811676
hg1911676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607083
Supporting Variants
SamplesHG03817
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12089729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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