A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759565



Internal ID9635024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133952432..134139044hg38UCSC Ensembl
Innerchr7:133637185..133823797hg19UCSC Ensembl
Innerchr7:133287725..133474337hg18UCSC Ensembl
Innerchr7:133094440..133281052hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38186613
hg19186613
hg18186613
hg17186613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758135
SamplesNA19142, NA18964, NA19127, NA12801, NA18952, NA07056, NA19173, NA18501, NA19120, NA19223, NA18545, NA18516, NA18529, NA18573, NA19144, NA18506, NA18862, NA18912, NA18998, NA18508, NA11839, NA11840, NA12004, NA18854, NA12762, NA19000, NA19129, NA19094, NA19206, NA19098, NA19131, NA19159, NA19138, NA19101, NA12812, NA19132, NA19099, NA19130, NA19240, NA19204, NA18981, NA19202, NA07000
Known GenesEXOC4, LRGUK
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)esv2759565
Frequency
Sample Size270
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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