A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10262



Internal ID9607295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29501324..29704888hg38UCSC Ensembl
Innerchr6:29469101..29672665hg19UCSC Ensembl
Innerchr6:29577080..29780644hg18UCSC Ensembl
Innerchr6:29577080..29780644hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38203565
hg19203565
hg18203565
hg17203565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758039
Supporting Variants
SamplesNA18506
Known GenesGABBR1, LINC01015, MOG, OR2H2, SNORD32B, UBD, ZFP57
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)essv10262
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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