A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380492



Internal ID15227464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82659087..82660985hg38UCSC Ensembl
Innerchr17:82659985..82660087hg38UCSC Ensembl
Outerchr17:82658087..82661985hg38UCSC Ensembl
chr17:80616963..80618861hg19UCSC Ensembl
Innerchr17:80617861..80617963hg19UCSC Ensembl
Outerchr17:80615963..80619861hg19UCSC Ensembl
chr17:78210252..78212150hg18UCSC Ensembl
Innerchr17:78211252..78211150hg18UCSC Ensembl
Outerchr17:78209252..78213150hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691061
SamplesNA19239
Known GenesRAB40B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380492
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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