A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8922294



Internal ID14339417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175480897..175480919hg38UCSC Ensembl
Innerchr4:175480898..175480915hg38UCSC Ensembl
Outerchr4:175480876..175480937hg38UCSC Ensembl
chr4:176402048..176402070hg19UCSC Ensembl
Innerchr4:176402049..176402066hg19UCSC Ensembl
Outerchr4:176402027..176402088hg19UCSC Ensembl
chr4:176639042..176639064hg18UCSC Ensembl
Innerchr4:176639060..176639043hg18UCSC Ensembl
Outerchr4:176639021..176639082hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408795
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8922294
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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