A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451602



Internal ID15298547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81415657..81416855hg38UCSC Ensembl
Innerchr17:81415855..81416657hg38UCSC Ensembl
Outerchr17:81414657..81417855hg38UCSC Ensembl
chr17:79389457..79390655hg19UCSC Ensembl
Innerchr17:79389655..79390457hg19UCSC Ensembl
Outerchr17:79388457..79391655hg19UCSC Ensembl
chr17:77004052..77005250hg18UCSC Ensembl
Innerchr17:77005052..77004250hg18UCSC Ensembl
Outerchr17:77003052..77006250hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1830e59
Supporting Variantsessv8691057
SamplesNA19239
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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