A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23915



Internal ID9622464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29824657..29924540hg38UCSC Ensembl
Innerchr6:29792434..29892317hg19UCSC Ensembl
Innerchr6:29900413..30000296hg18UCSC Ensembl
Innerchr6:29900413..30000296hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3899884
hg1999884
hg1899884
hg1799884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758040
Supporting Variants
SamplesNA12814
Known GenesHLA-G, HLA-H
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv23915
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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