A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753256



Internal ID18727502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48730918..48731104hg38UCSC Ensembl
Outerchr17:48730914..48731146hg38UCSC Ensembl
Innerchr17:46808280..46808466hg19UCSC Ensembl
Outerchr17:46808276..46808508hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554509
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753256
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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