A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540257



Internal ID18741333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105171732..105172795hg38UCSC Ensembl
Outerchr6:105171729..105172839hg38UCSC Ensembl
Innerchr6:105619607..105620670hg19UCSC Ensembl
Outerchr6:105619604..105620714hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739004
Samples
Known GenesPOPDC3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540257
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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