A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8136



Internal ID9630125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138104406..138262981hg38UCSC Ensembl
Innerchr9:140998858..141153431hg19UCSC Ensembl
Innerchr9:140118679..140273252hg18UCSC Ensembl
Innerchr9:138274695..138429268hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38158576
hg19154574
hg18154574
hg17154574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758206
Supporting Variants
SamplesNA19206
Known GenesCACNA1B, FAM157B, TUBBP5
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)essv8136
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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