A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629508



Internal ID6669647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51639728..51650779hg38UCSC Ensembl
chr12:52033512..52044563hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3811052
hg1911052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14481123, essv14481122
SamplesHG03800, HG01668
Known GenesSCN8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629508
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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