A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549934



Internal ID18404324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124358318..124358403hg38UCSC Ensembl
chr12:124842864..124842949hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748681
Samples
Known GenesNCOR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549934
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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