A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673774



Internal ID14767995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154151283..154151294hg38UCSC Ensembl
Innerchr1:154151276..154151301hg38UCSC Ensembl
Outerchr1:154151265..154151312hg38UCSC Ensembl
chr1:154123759..154123770hg19UCSC Ensembl
Innerchr1:154123752..154123777hg19UCSC Ensembl
Outerchr1:154123741..154123788hg19UCSC Ensembl
chr1:152390383..152390394hg18UCSC Ensembl
Innerchr1:152390401..152390376hg18UCSC Ensembl
Outerchr1:152390365..152390412hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417021
Supporting Variants
SamplesNA19240
Known GenesNUP210L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673774
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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