A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434025



Internal ID15280980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82659687..82660885hg38UCSC Ensembl
Innerchr17:82659885..82660687hg38UCSC Ensembl
Outerchr17:82658687..82661885hg38UCSC Ensembl
chr17:80617563..80618761hg19UCSC Ensembl
Innerchr17:80617761..80618563hg19UCSC Ensembl
Outerchr17:80616563..80619761hg19UCSC Ensembl
chr17:78210852..78212050hg18UCSC Ensembl
Innerchr17:78211852..78211050hg18UCSC Ensembl
Outerchr17:78209852..78213050hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691062
SamplesNA19240
Known GenesRAB40B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434025
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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