A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275123



Internal ID348029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124863318..124867848hg38UCSC Ensembl
Outerchr6:124854187..124868838hg38UCSC Ensembl
Innerchr6:125184464..125188994hg19UCSC Ensembl
Outerchr6:125175333..125189984hg19UCSC Ensembl
Innerchr6:125226163..125230693hg18UCSC Ensembl
Outerchr6:125217032..125231683hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3814652
hg1914652
hg1814652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585971
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)esv275123
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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