A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e215



Internal ID20151044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62123776..62123827hg38UCSC Ensembl
chr1:62589448..62589499hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3559562, esv3562904
Samples
Known GenesINADL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv5e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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