A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4849



Internal ID9963322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32898012..32996319hg38UCSC Ensembl
Innerchr6:32865789..32964096hg19UCSC Ensembl
Innerchr6:32973767..33072074hg18UCSC Ensembl
Innerchr6:32973767..33072074hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3898308
hg1998308
hg1898308
hg1798308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758045
Supporting Variants
SamplesNA18540
Known GenesBRD2, HLA-DMA, HLA-DMB, LOC100294145
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)essv4849
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