A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593559



Internal ID6633839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182126607..182163512hg38UCSC Ensembl
chr2:182991334..183028239hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3836906
hg1936906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788443
SamplesHG01936
Known GenesPDE1A, PPP1R1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593559
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