A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358456



Internal ID14858718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76169669..76169669hg38UCSC Ensembl
Innerchr17:76169668..76169670hg38UCSC Ensembl
Outerchr17:76169619..76169719hg38UCSC Ensembl
chr17:74165750..74165750hg19UCSC Ensembl
Innerchr17:74165749..74165751hg19UCSC Ensembl
Outerchr17:74165700..74165800hg19UCSC Ensembl
chr17:71677345..71677345hg18UCSC Ensembl
Innerchr17:71677346..71677344hg18UCSC Ensembl
Outerchr17:71677295..71677395hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740878
SamplesNA19240
Known GenesRNF157
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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