A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598273



Internal ID6638538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155342999..155574230hg38UCSC Ensembl
Innerchr3:155342999..155574230hg38UCSC Ensembl
Outerchr3:155342499..155574730hg38UCSC Ensembl
chr3:155060788..155292019hg19UCSC Ensembl
Innerchr3:155060788..155292019hg19UCSC Ensembl
Outerchr3:155060288..155292519hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38231232
hg19231232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11191732
SamplesNA21088
Known GenesPLCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598273
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