A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10377



Internal ID9607422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71942441..72240448hg38UCSC Ensembl
Innerchr16:71976344..72274347hg19UCSC Ensembl
Innerchr16:70533845..70831848hg18UCSC Ensembl
Innerchr16:70533845..70831848hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38298008
hg19298004
hg18298004
hg17298004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758430
Supporting Variants
SamplesNA19222
Known GenesDHODH, DHX38, HP, HPR, PKD1L3, PMFBP1, TXNL4B
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)essv10377
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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