A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e215



Internal ID19009811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242144150..242144225hg38UCSC Ensembl
chr1:242307452..242307527hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3549599, esv3559570
Samples
Known GenesPLD5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv20e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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