A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691085



Internal ID14681289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9227010..9228108hg38UCSC Ensembl
Innerchr17:9227108..9228010hg38UCSC Ensembl
Outerchr17:9226010..9229108hg38UCSC Ensembl
chr17:9130327..9131425hg19UCSC Ensembl
Innerchr17:9130425..9131327hg19UCSC Ensembl
Outerchr17:9129327..9132425hg19UCSC Ensembl
chr17:9071052..9072150hg18UCSC Ensembl
Innerchr17:9072052..9071150hg18UCSC Ensembl
Outerchr17:9070052..9073150hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373663
Supporting Variants
SamplesNA19238
Known GenesNTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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