A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556454



Internal ID18410844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44969848..44970946hg38UCSC Ensembl
Outerchr19:44969743..44971108hg38UCSC Ensembl
Innerchr19:45473105..45474203hg19UCSC Ensembl
Outerchr19:45473000..45474365hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224e215
Supporting Variantsessv9755201
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556454
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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