A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22108



Internal ID9620457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136573949..136932033hg38UCSC Ensembl
Innerchr9:139468401..139826485hg19UCSC Ensembl
Innerchr9:138588222..138946306hg18UCSC Ensembl
Innerchr9:136744238..137102322hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38358085
hg19358085
hg18358085
hg17358085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758204
Supporting Variants
SamplesNA10857
Known GenesAGPAT2, C9orf172, CCDC183, CCDC183-AS1, EDF1, EGFL7, FAM69B, LCN10, LCN15, LCN6, LCN8, LOC100128593, MAMDC4, MIR126, MIR4292, MIR4479, MIR6722, PHPT1, RABL6, SNHG7, SNORA17, SNORA43, TMEM141, TRAF2
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)essv22108
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