A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549924



Internal ID18404314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123731563..123731617hg38UCSC Ensembl
chr12:124216110..124216164hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748671
Samples
Known GenesATP6V0A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549924
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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