A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10774973



Internal ID776789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177618127..177839958hg38UCSC Ensembl
chr2:178482855..178704685hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38221832
hg19221831
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593466
Supporting Variants
SamplesHG00543
Known GenesPDE11A, TTC30A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10774973
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