A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757915



Internal ID9979992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198045544..198235559hg38UCSC Ensembl
Innerchr3:197772415..197962430hg19UCSC Ensembl
Innerchr3:199256812..199446827hg18UCSC Ensembl
Innerchr3:199260725..199450740hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38190016
hg19190016
hg18190016
hg17190016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759215
Supporting Variantsessv9219, essv16122, essv12786, essv11641, essv23937, essv22985, essv8120, essv14311, essv14503, essv12265, essv10079, essv10758, essv9394, essv10655, essv10904, essv11172, essv15859, essv15500
SamplesNA12814, NA18855, NA07357, NA19128, NA19209, NA19120, NA19194, NA19202, NA19154, NA18853, NA19099, NA19101, NA18523, NA19206, NA19100, NA19223, NA19211, NA18505
Known GenesANKRD18DP, FAM157A
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)esv2757915
Frequency
Sample Size270
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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