A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758777



Internal ID9634236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1496135..1698610hg38UCSC Ensembl
Innerchr20:1476781..1679256hg19UCSC Ensembl
Innerchr20:1424781..1627256hg18UCSC Ensembl
Innerchr20:1424781..1627256hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38202476
hg19202476
hg18202476
hg17202476
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758509
SamplesNA19222, NA11830, NA18621, NA11829, NA19204, NA18862, NA18508, NA18855, NA19145, NA18603, NA19098, NA07357, NA12813, NA19127, NA19192, NA19171, NA19119, NA18547, NA18942, NA07048, NA12762, NA19130, NA18949, NA12156, NA19137, NA12044, NA19128, NA12815, NA18990, NA19007, NA18951, NA19210, NA19120, NA19194, NA12003, NA10831, NA18859, NA19205, NA11839, NA10838, NA18981, NA12234, NA19202, NA19142, NA11840, NA10830, NA18856, NA12249, NA18912, NA19154, NA18532, NA19099, NA19101, NA12144, NA06985, NA18523, NA10856, NA18608, NA18953, NA19094, NA18978, NA19206, NA06991, NA12864, NA18913, NA19240, NA19100, NA19144, NA18501, NA19223, NA19173, NA19211, NA19093, NA19116, NA19129, NA18968, NA18562, NA18620
Known GenesSIRPB1, SIRPD, SIRPG
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)esv2758777
Frequency
Sample Size270
Observed Gain3
Observed Loss75
Observed Complex0
Frequencyn/a


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