A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386034



Internal ID14886317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60724186..60724186hg38UCSC Ensembl
Innerchr17:60724185..60724187hg38UCSC Ensembl
Outerchr17:60724136..60724236hg38UCSC Ensembl
chr17:58801547..58801547hg19UCSC Ensembl
Innerchr17:58801546..58801548hg19UCSC Ensembl
Outerchr17:58801497..58801597hg19UCSC Ensembl
chr17:56156329..56156329hg18UCSC Ensembl
Innerchr17:56156330..56156328hg18UCSC Ensembl
Outerchr17:56156279..56156379hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38672
hg19672
hg18672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740874
SamplesNA19240
Known GenesBCAS3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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