A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758323



Internal ID9980400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18445861..18882808hg38UCSC Ensembl
Innerchr13:19020001..19456948hg19UCSC Ensembl
Innerchr13:17918001..18354948hg18UCSC Ensembl
Innerchr13:17918001..18354948hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38436948
hg19436948
hg18436948
hg17436948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759924
Supporting Variantsessv139, essv19193, essv16032, essv5491, essv4829
SamplesNA12865, NA18632, NA18540, NA18501, NA18968
Known GenesANKRD20A9P, LINC00417
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)esv2758323
Frequency
Sample Size270
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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