A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16417



Internal ID9614133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15037715..15272693hg38UCSC Ensembl
Innerchr16:15131572..15366550hg19UCSC Ensembl
Innerchr16:15039073..15274051hg18UCSC Ensembl
Innerchr16:15039073..15274051hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38234979
hg19234979
hg18234979
hg17234979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA19139
Known GenesMIR3180-4, MIR6511B-1, NTAN1, PDXDC1, RRN3
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)essv16417
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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