A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382554



Internal ID15229525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83035768..83036021hg38UCSC Ensembl
Innerchr17:83035768..83036021hg38UCSC Ensembl
Outerchr17:83035501..83037258hg38UCSC Ensembl
chr17:80993644..80993897hg19UCSC Ensembl
Innerchr17:80993644..80993897hg19UCSC Ensembl
Outerchr17:80993377..80995134hg19UCSC Ensembl
chr17:78586933..78587186hg18UCSC Ensembl
Innerchr17:78586933..78587186hg18UCSC Ensembl
Outerchr17:78586666..78588423hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651983
SamplesNA19240
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382554
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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