A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413977



Internal ID15260936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68245202..68245215hg38UCSC Ensembl
Innerchr17:68245178..68245239hg38UCSC Ensembl
Outerchr17:68245165..68245252hg38UCSC Ensembl
chr17:66241343..66241356hg19UCSC Ensembl
Innerchr17:66241319..66241380hg19UCSC Ensembl
Outerchr17:66241306..66241393hg19UCSC Ensembl
chr17:63752938..63752951hg18UCSC Ensembl
Innerchr17:63752975..63752914hg18UCSC Ensembl
Outerchr17:63752901..63752988hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865990
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413977
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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