A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758402



Internal ID9633861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101192611..101362879hg38UCSC Ensembl
Innerchr15:101732816..101903084hg19UCSC Ensembl
Innerchr15:99550339..99720607hg18UCSC Ensembl
Innerchr15:99550339..99720607hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38170269
hg19170269
hg18170269
hg17170269
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760063
Supporting Variantsessv18266, essv2019, essv16797, essv18162, essv24695, essv7169, essv9985, essv7596, essv362, essv14968, essv21162, essv24774, essv15811, essv7306, essv24253, essv16891
SamplesNA11829, NA18545, NA18870, NA10846, NA18547, NA18949, NA12815, NA19205, NA19099, NA10856, NA18570, NA12057, NA18971, NA19223, NA10860, NA18872
Known GenesCHSY1, LOC100507472, PCSK6, SNRPA1, VIMP
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)esv2758402
Frequency
Sample Size270
Observed Gain8
Observed Loss8
Observed Complex0
Frequencyn/a


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