A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607086



Internal ID6647328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147076851..147077854hg38UCSC Ensembl
Innerchr5:147076851..147077854hg38UCSC Ensembl
Outerchr5:147076750..147077935hg38UCSC Ensembl
chr5:146456414..146457417hg19UCSC Ensembl
Innerchr5:146456414..146457417hg19UCSC Ensembl
Outerchr5:146456313..146457498hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12089933
SamplesHG02522
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607086
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer