A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554852



Internal ID18755928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80231287..80231410hg38UCSC Ensembl
Outerchr17:80231274..80231419hg38UCSC Ensembl
Innerchr17:78205086..78205209hg19UCSC Ensembl
Outerchr17:78205073..78205218hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753599
Samples
Known GenesSLC26A11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554852
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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