A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753599



Internal ID18727845
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 StatusS
Merged Variantsesv3554852
Supporting Variants
Samples
Known GenesSLC26A11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753599
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer