A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758346



Internal ID9980423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112722543..113036887hg38UCSC Ensembl
Innerchr13:113376857..113691201hg19UCSC Ensembl
Innerchr13:112424858..112739202hg18UCSC Ensembl
Innerchr13:112424858..112739202hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38314345
hg19314345
hg18314345
hg17314345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759969
Supporting Variantsessv13471, essv9738, essv10293, essv10792, essv9193, essv12529, essv8842, essv10165, essv15511, essv9151, essv10254, essv11789, essv14367, essv9097, essv11700, essv12973, essv1950, essv14793, essv14892, essv16203
SamplesNA18508, NA18504, NA18959, NA19192, NA18860, NA19130, NA19207, NA19128, NA19159, NA19194, NA19152, NA19161, NA18859, NA19154, NA18523, NA19132, NA18913, NA18506, NA18505, NA18522
Known GenesATP11A, MCF2L, MCF2L-AS1
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)esv2758346
Frequency
Sample Size270
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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