A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691084



Internal ID14757241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9226910..9228908hg38UCSC Ensembl
Innerchr17:9227908..9227910hg38UCSC Ensembl
Outerchr17:9225910..9229908hg38UCSC Ensembl
chr17:9130227..9132225hg19UCSC Ensembl
Innerchr17:9131225..9131227hg19UCSC Ensembl
Outerchr17:9129227..9133225hg19UCSC Ensembl
chr17:9070952..9072950hg18UCSC Ensembl
Innerchr17:9071952..9071950hg18UCSC Ensembl
Outerchr17:9069952..9073950hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427416
Supporting Variants
SamplesNA19240
Known GenesNTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691084
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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