A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275557



Internal ID348463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108466638..108467467hg38UCSC Ensembl
Outerchr4:108464420..108482929hg38UCSC Ensembl
Innerchr4:109387794..109388623hg19UCSC Ensembl
Outerchr4:109385576..109404085hg19UCSC Ensembl
Innerchr4:109607243..109608072hg18UCSC Ensembl
Outerchr4:109605025..109623534hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3818510
hg1918510
hg1818510
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585530, essv2585245
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275557
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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