A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548706



Internal ID18749782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844905..7971404hg38UCSC Ensembl
Outerchr12:7842215..7980904hg38UCSC Ensembl
Innerchr12:7997501..8124000hg19UCSC Ensembl
Outerchr12:7994811..8133500hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38138690
hg19138690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747453
Samples
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548706
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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