A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2852



Internal ID9624254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159951212..160813633hg38UCSC Ensembl
Innerchr6:160372244..161234665hg19UCSC Ensembl
Innerchr6:160292234..161154655hg18UCSC Ensembl
Innerchr6:160342655..161205076hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38862422
hg19862422
hg18862422
hg17862422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758089
Supporting Variants
SamplesNA18953
Known GenesAIRN, IGF2R, LOC729603, LPA, LPAL2, PLG, SLC22A1, SLC22A2, SLC22A3
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)essv2852
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