A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549691



Internal ID18750767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101708723..101712372hg38UCSC Ensembl
Outerchr12:101708518..101713308hg38UCSC Ensembl
Innerchr12:102102501..102106150hg19UCSC Ensembl
Outerchr12:102102296..102107086hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384791
hg194791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e215
Supporting Variantsessv9748438
Samples
Known GenesCHPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549691
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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