A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417899



Internal ID15264857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:242254..243829hg38UCSC Ensembl
Innerchr17:242254..243829hg38UCSC Ensembl
Outerchr17:242185..243960hg38UCSC Ensembl
chr17:92045..93620hg19UCSC Ensembl
Innerchr17:92045..93620hg19UCSC Ensembl
Outerchr17:91976..93751hg19UCSC Ensembl
chr17:92045..93620hg18UCSC Ensembl
Innerchr17:92045..93620hg18UCSC Ensembl
Outerchr17:91976..93751hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381576
hg191576
hg181576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651987
SamplesNA19240
Known GenesRPH3AL
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417899
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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