A curated catalogue of human genomic structural variation




Variant Details

Variant: essv344



Internal ID9624907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21489241..21914912hg38UCSC Ensembl
Innerchr16:21500562..21926233hg19UCSC Ensembl
Innerchr16:21408063..21833734hg18UCSC Ensembl
Innerchr16:21408063..21833734hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38425672
hg19425672
hg18425672
hg17425672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758414
Supporting Variants
SamplesNA18971
Known GenesIGSF6, LOC100190986, LOC100271836, METTL9, OTOA, RRN3P1, SLC7A5P2
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)essv344
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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