A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426884



Internal ID15273841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47176235..47176243hg38UCSC Ensembl
Innerchr17:47176237..47176241hg38UCSC Ensembl
Outerchr17:47176233..47176245hg38UCSC Ensembl
chr17:45253601..45253609hg19UCSC Ensembl
Innerchr17:45253603..45253607hg19UCSC Ensembl
Outerchr17:45253599..45253611hg19UCSC Ensembl
chr17:42608600..42608608hg18UCSC Ensembl
Innerchr17:42608602..42608606hg18UCSC Ensembl
Outerchr17:42608598..42608610hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865977
SamplesNA12005
Known GenesCDC27
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426884
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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