A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv15e215



Internal ID20151054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180323825..180324211hg38UCSC Ensembl
chr1:180292960..180293346hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3543278, esv3543289
Samples
Known GenesACBD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv15e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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