A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12622



Internal ID9609917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143427140..143594148hg38UCSC Ensembl
Innerchr4:144348293..144515301hg19UCSC Ensembl
Innerchr4:144567743..144734751hg18UCSC Ensembl
Innerchr4:144705898..144872906hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38167009
hg19167009
hg18167009
hg17167009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA18500
Known GenesFREM3, GAB1, GUSBP5, SMARCA5, SMARCA5-AS1
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)essv12622
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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