A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759548



Internal ID9635007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102257460..102432000hg38UCSC Ensembl
Innerchr7:101900740..102072447hg19UCSC Ensembl
Innerchr7:101687460..101859452hg18UCSC Ensembl
Innerchr7:101494175..101666167hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38174541
hg19171708
hg18171993
hg17171993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758126
SamplesNA19099, NA19144
Known GenesCUX1, LOC100289561, LOC100630923, MIR4285, PRKRIP1, SH2B2, SPDYE6
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)esv2759548
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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