A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690714



Internal ID14680110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36109246..36177677hg38UCSC Ensembl
Innerchr17:36110246..36176677hg38UCSC Ensembl
Outerchr17:36108246..36178677hg38UCSC Ensembl
chr17:34436639..34505037hg19UCSC Ensembl
Innerchr17:34437639..34504037hg19UCSC Ensembl
Outerchr17:34435639..34506037hg19UCSC Ensembl
chr17:31460752..31529150hg18UCSC Ensembl
Innerchr17:31461752..31528150hg18UCSC Ensembl
Outerchr17:31459752..31530150hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3868432
hg1968399
hg1868399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3373836
Supporting Variants
SamplesNA19238
Known GenesTBC1D3B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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