A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397284



Internal ID15244247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76397876..76401274hg38UCSC Ensembl
Innerchr17:76398876..76400274hg38UCSC Ensembl
Outerchr17:76396876..76402274hg38UCSC Ensembl
chr17:74393957..74397355hg19UCSC Ensembl
Innerchr17:74394957..74396355hg19UCSC Ensembl
Outerchr17:74392957..74398355hg19UCSC Ensembl
chr17:71905552..71908950hg18UCSC Ensembl
Innerchr17:71906552..71907950hg18UCSC Ensembl
Outerchr17:71904552..71909950hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691027
SamplesNA19240
Known GenesUBE2O
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397284
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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