A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586248



Internal ID6626561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63843876..63848911hg38UCSC Ensembl
chr1:64309547..64314582hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385036
hg195036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9951183
SamplesHG00155
Known GenesROR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586248
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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