A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629602



Internal ID7016423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56849739..56854675hg38UCSC Ensembl
chr12:57243523..57248459hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384937
hg194937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486744, essv14486743
SamplesNA18981, NA20348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629602
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer