A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554679



Internal ID18755755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67442555..67447330hg38UCSC Ensembl
Outerchr17:67441885..67447884hg38UCSC Ensembl
Innerchr17:65438671..65443446hg19UCSC Ensembl
Outerchr17:65438001..65444000hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753426
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554679
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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