A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607080



Internal ID6647322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146925837..146937881hg38UCSC Ensembl
Innerchr5:146925837..146937881hg38UCSC Ensembl
Outerchr5:146925799..146937986hg38UCSC Ensembl
chr5:146305400..146317444hg19UCSC Ensembl
Innerchr5:146305400..146317444hg19UCSC Ensembl
Outerchr5:146305362..146317549hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3812045
hg1912045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12088553, essv12088552, essv12088554
SamplesNA19669, NA20509, NA12546
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607080
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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