A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275187



Internal ID348093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56601624..56601751hg38UCSC Ensembl
Outerchr5:56601532..56601998hg38UCSC Ensembl
Innerchr5:55897451..55897578hg19UCSC Ensembl
Outerchr5:55897359..55897825hg19UCSC Ensembl
Innerchr5:55933208..55933335hg18UCSC Ensembl
Outerchr5:55933116..55933582hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585731, essv2585624
Samples
Known GenesLOC101928448
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275187
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