A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441277



Internal ID15288230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15464813..15465811hg38UCSC Ensembl
Innerchr17:15464812..15465812hg38UCSC Ensembl
Outerchr17:15463813..15466811hg38UCSC Ensembl
chr17:15368127..15369125hg19UCSC Ensembl
Innerchr17:15368126..15369126hg19UCSC Ensembl
Outerchr17:15367127..15370125hg19UCSC Ensembl
chr17:15308852..15309850hg18UCSC Ensembl
Innerchr17:15309851..15308851hg18UCSC Ensembl
Outerchr17:15307852..15310850hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1694e59
Supporting Variantsessv8690533
SamplesNA19238
Known GenesCDRT4, TVP23C-CDRT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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