A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554749



Internal ID18755825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:72819898..72824474hg38UCSC Ensembl
Outerchr17:72818862..72825361hg38UCSC Ensembl
Innerchr17:70816037..70820613hg19UCSC Ensembl
Outerchr17:70815001..70821500hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753496
Samples
Known GenesSLC39A11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554749
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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