A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14510



Internal ID9612015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6874198..7248826hg38UCSC Ensembl
Innerchr8:6731720..7106348hg19UCSC Ensembl
Innerchr8:6719130..7093758hg18UCSC Ensembl
Innerchr8:6719130..7093758hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38374629
hg19374629
hg18374629
hg17374629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA19202
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
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)essv14510
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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