A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758641



Internal ID9634100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29262627..29691031hg38UCSC Ensembl
Innerchr16:29273948..29702352hg19UCSC Ensembl
Innerchr16:29181449..29609853hg18UCSC Ensembl
Innerchr16:29181449..29609853hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38428405
hg19428405
hg18428405
hg17428405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758419
SamplesNA19142, NA18501, NA12005, NA19161, NA18967, NA12864, NA18976, NA19129, NA19159, NA19138, NA19101, NA11829, NA12874
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC606724, LOC613038, QPRT, SLC7A5P1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNX29P2, SPN, SULT1A3, SULT1A4
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)esv2758641
Frequency
Sample Size270
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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