A curated catalogue of human genomic structural variation




Variant Details

Variant: essv530



Internal ID9626974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61147888..61313185hg38UCSC Ensembl
Innerchr11:60915360..61080657hg19UCSC Ensembl
Innerchr11:60671936..60837233hg18UCSC Ensembl
Innerchr11:60671936..60837233hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38165298
hg19165298
hg18165298
hg17165298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758273
Supporting Variants
SamplesNA18998
Known GenesDDB1, PGA3, PGA4, PGA5, VPS37C, VWCE
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)essv530
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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