A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629661



Internal ID6669800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59555455..59609269hg38UCSC Ensembl
chr12:59949236..60003050hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3853815
hg1953815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14499237
SamplesNA19027
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629661
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