A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653364



Internal ID13671008
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 StatusS
Merged Variantsesv3408796
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653364
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer