A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6739



Internal ID9628572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14787899..15132453hg38UCSC Ensembl
Innerchr16:14881756..15226310hg19UCSC Ensembl
Innerchr16:14789257..15133811hg18UCSC Ensembl
Innerchr16:14789257..15133811hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38344555
hg19344555
hg18344555
hg17344555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA18562
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, 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)essv6739
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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