A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592352



Internal ID6979679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127170604..127210940hg38UCSC Ensembl
chr2:127928180..127968516hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3840337
hg1940337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663537
SamplesHG03082
Known GenesCYP27C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592352
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