A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546941



Internal ID18401331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467294..120469016hg38UCSC Ensembl
Outerchr10:120467105..120469446hg38UCSC Ensembl
Innerchr10:122226806..122228528hg19UCSC Ensembl
Outerchr10:122226617..122228958hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745688
Samples
Known GenesPPAPDC1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546941
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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