A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753673



Internal ID18727919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83039236..83039580hg38UCSC Ensembl
Outerchr17:83039204..83039622hg38UCSC Ensembl
Innerchr17:80997112..80997456hg19UCSC Ensembl
Outerchr17:80997080..80997498hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554926
Supporting Variants
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753673
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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