A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549486



Internal ID18750562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82365709..82365809hg38UCSC Ensembl
Outerchr12:82365701..82365819hg38UCSC Ensembl
Innerchr12:82759488..82759588hg19UCSC Ensembl
Outerchr12:82759480..82759598hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748233
Samples
Known GenesMETTL25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549486
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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