A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759382



Internal ID9634841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140777355..141449115hg38UCSC Ensembl
Innerchr5:140156940..140828682hg19UCSC Ensembl
Innerchr5:140137124..140808866hg18UCSC Ensembl
Innerchr5:140137124..140808866hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38671761
hg19671743
hg18671743
hg17671743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758019
SamplesNA10831, NA12750, NA18501, NA19120, NA18859, NA10847, NA18545, NA18603, NA18516, NA12813, NA12005, NA19210, NA07348, NA18508, NA19239, NA11840, NA10846, NA12864, NA12762, NA12814, NA07048, NA12761, NA12234, NA12144, NA18620, NA19129, NA19154, NA10856, NA18978, NA18961, NA19159, NA18987, NA19101, NA06991, NA10838, NA11993, NA12248, NA19171, NA18532, NA19204, NA18981, NA06994, NA18913, NA19202, NA10854
Known GenesLOC101926905, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P, SLC25A2, TAF7
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)esv2759382
Frequency
Sample Size270
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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