A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410224



Internal ID14910498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60631388..60631388hg38UCSC Ensembl
Innerchr17:60631387..60631389hg38UCSC Ensembl
Outerchr17:60631338..60631438hg38UCSC Ensembl
chr17:58708749..58708749hg19UCSC Ensembl
Innerchr17:58708748..58708750hg19UCSC Ensembl
Outerchr17:58708699..58708799hg19UCSC Ensembl
chr17:56063531..56063531hg18UCSC Ensembl
Innerchr17:56063532..56063530hg18UCSC Ensembl
Outerchr17:56063481..56063581hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740873
SamplesNA19240
Known GenesPPM1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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