A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594003



Internal ID6634280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202891617..202928902hg38UCSC Ensembl
chr2:203756340..203793625hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3837286
hg1937286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825034
SamplesHG04161
Known GenesCARF, WDR12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594003
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