A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12089834



Internal ID2091650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147015151..147017745hg38UCSC Ensembl
Innerchr5:147015152..147017744hg38UCSC Ensembl
Outerchr5:147015150..147017746hg38UCSC Ensembl
chr5:146394714..146397308hg19UCSC Ensembl
Innerchr5:146394715..146397307hg19UCSC Ensembl
Outerchr5:146394713..146397309hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607084
Supporting Variants
SamplesHG03884
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12089834
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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