A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444184



Internal ID15291137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:809799..810730hg38UCSC Ensembl
Innerchr17:809798..810731hg38UCSC Ensembl
Outerchr17:809689..810850hg38UCSC Ensembl
chr17:713039..713970hg19UCSC Ensembl
Innerchr17:713038..713971hg19UCSC Ensembl
Outerchr17:712929..714090hg19UCSC Ensembl
chr17:659789..660720hg18UCSC Ensembl
Innerchr17:660721..659788hg18UCSC Ensembl
Outerchr17:659679..660840hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38932
hg19932
hg18932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808797
SamplesNA12878
Known GenesNXN
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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