A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12088555



Internal ID2090372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146936124..146936667hg38UCSC Ensembl
Innerchr5:146936174..146936617hg38UCSC Ensembl
Outerchr5:146936074..146936717hg38UCSC Ensembl
chr5:146315687..146316230hg19UCSC Ensembl
Innerchr5:146315737..146316180hg19UCSC Ensembl
Outerchr5:146315637..146316280hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607081
Supporting Variants
SamplesNA20510
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12088555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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