A curated catalogue of human genomic structural variation




Variant Details

Variant: esv690



Internal ID26429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31028290..31542308hg19UCSC Ensembl
chr6:31136269..31650287hg18UCSC Ensembl
chr6:31136269..31650287hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV CNV
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
Samples
Known GenesATP6V1G2, ATP6V1G2-DDX39B, C6orf15, CCHCR1, CDSN, DDX39B, HCG26, HCG27, HCP5, HLA-B, HLA-C, LTA, MCCD1, MICA, MICB, NFKBIL1, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, SNORD117, SNORD84, TCF19
Method
AnalysisVariant regions only detected by both WGTP and 500k experimentation. CNV regions from each sample identified using the two platforms were merged into a single list of non-redundant CNV regions if they overlapped, regardless of the size of the overlap or the frequency with which the CNV is called on either platform.
PlatformAgilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP)
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)esv690
Frequency
Sample Size271
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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