A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19525



Internal ID9960789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125822490..125983913hg38UCSC Ensembl
Innerchr3:125541333..125702756hg19UCSC Ensembl
Innerchr3:127024023..127185446hg18UCSC Ensembl
Innerchr3:127024031..127185454hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38161424
hg19161424
hg18161424
hg17161424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757887
Supporting Variants
SamplesNA12864
Known GenesALG1L, FAM86JP, ROPN1B
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)essv19525
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