A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14481123



Internal ID4482939
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629508
Supporting Variants
SamplesHG03800
Known GenesSCN8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14481123
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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