A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554495



Internal ID18408885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47557417..47557915hg38UCSC Ensembl
Outerchr17:47557413..47557918hg38UCSC Ensembl
Innerchr17:45634783..45635281hg19UCSC Ensembl
Outerchr17:45634779..45635284hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753242
Samples
Known GenesNPEPPS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554495
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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