A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24273



Internal ID9622862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14986138..15148368hg38UCSC Ensembl
Innerchr19:15096950..15259179hg19UCSC Ensembl
Innerchr19:14957950..15120179hg18UCSC Ensembl
Innerchr19:14957950..15120179hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38162231
hg19162230
hg18162230
hg17162230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758487
Supporting Variants
SamplesNA10856
Known GenesCASP14, CCDC105, ILVBL, OR1I1, SLC1A6, SYDE1
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)essv24273
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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