A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759720



Internal ID9635179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136356377..136932033hg38UCSC Ensembl
Innerchr9:139250829..139826485hg19UCSC Ensembl
Innerchr9:138370650..138946306hg18UCSC Ensembl
Innerchr9:136526666..137102322hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38575657
hg19575657
hg18575657
hg17575657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758204
SamplesNA11829, NA10857, NA10854, NA12802, NA12815, NA12003, NA10838, NA11840, NA12043
Known GenesAGPAT2, C9orf163, C9orf172, CARD9, CCDC183, CCDC183-AS1, DNLZ, EDF1, EGFL7, FAM69B, GPSM1, INPP5E, LCN10, LCN15, LCN6, LCN8, LOC100128593, MAMDC4, MIR126, MIR4292, MIR4479, MIR4673, MIR4674, MIR6722, NOTCH1, PHPT1, PMPCA, RABL6, SDCCAG3, SEC16A, SNAPC4, 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)esv2759720
Frequency
Sample Size270
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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