A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740868



Internal ID14737790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31311207..31311207hg38UCSC Ensembl
Innerchr17:31311206..31311208hg38UCSC Ensembl
Outerchr17:31311157..31311257hg38UCSC Ensembl
chr17:29638225..29638225hg19UCSC Ensembl
Innerchr17:29638224..29638226hg19UCSC Ensembl
Outerchr17:29638175..29638275hg19UCSC Ensembl
chr17:26662351..26662351hg18UCSC Ensembl
Innerchr17:26662352..26662350hg18UCSC Ensembl
Outerchr17:26662301..26662401hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326282
Supporting Variants
SamplesNA19240
Known GenesEVI2B, NF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740868
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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