A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554784



Internal ID18409174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75276527..75276789hg38UCSC Ensembl
Outerchr17:75276463..75276845hg38UCSC Ensembl
Innerchr17:73272608..73272870hg19UCSC Ensembl
Outerchr17:73272544..73272926hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753531
Samples
Known GenesSLC25A19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554784
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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