A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408796



Internal ID15255757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141576088..141576088hg38UCSC Ensembl
Innerchr4:141576087..141576089hg38UCSC Ensembl
Outerchr4:141576038..141576138hg38UCSC Ensembl
chr4:142497241..142497241hg19UCSC Ensembl
Innerchr4:142497240..142497242hg19UCSC Ensembl
Outerchr4:142497191..142497291hg19UCSC Ensembl
chr4:142716691..142716691hg18UCSC Ensembl
Innerchr4:142716692..142716690hg18UCSC Ensembl
Outerchr4:142716641..142716741hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381040
hg191040
hg181040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653362, essv8653364, essv8653365
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408796
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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