A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10788443



Internal ID790259
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593559
Supporting Variants
SamplesHG01936
Known GenesPDE1A, PPP1R1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10788443
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