A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv171e215



Internal ID22785681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6030265..6030659hg38UCSC Ensembl
chr17:5933585..5933979hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3554059, esv3554058
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv171e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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