A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365799



Internal ID15212776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73695618..73697316hg38UCSC Ensembl
Innerchr17:73696316..73696618hg38UCSC Ensembl
Outerchr17:73694618..73698316hg38UCSC Ensembl
chr17:71691757..71693455hg19UCSC Ensembl
Innerchr17:71692455..71692757hg19UCSC Ensembl
Outerchr17:71690757..71694455hg19UCSC Ensembl
chr17:69203352..69205050hg18UCSC Ensembl
Innerchr17:69204352..69204050hg18UCSC Ensembl
Outerchr17:69202352..69206050hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1811e59
Supporting Variantsessv8691003
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365799
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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