A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548792



Internal ID18749868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13899411..13899758hg38UCSC Ensembl
Outerchr12:13899311..13899920hg38UCSC Ensembl
Innerchr12:14052345..14052692hg19UCSC Ensembl
Outerchr12:14052245..14052854hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747539
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548792
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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