A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596550



Internal ID6983864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73016856..73027151hg38UCSC Ensembl
Innerchr3:73016856..73027151hg38UCSC Ensembl
Outerchr3:73016356..73027651hg38UCSC Ensembl
chr3:73066007..73076302hg19UCSC Ensembl
Innerchr3:73066007..73076302hg19UCSC Ensembl
Outerchr3:73065507..73076802hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3810296
hg1910296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11038909
SamplesHG01183
Known GenesPPP4R2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596550
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