A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757932



Internal ID9980009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34635149..34954921hg38UCSC Ensembl
Innerchr4:34636771..34956543hg19UCSC Ensembl
Innerchr4:34313166..34632938hg18UCSC Ensembl
Innerchr4:34459337..34779109hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38319773
hg19319773
hg18319773
hg17319773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759247
Supporting Variantsessv4695, essv2869, essv16292, essv19441, essv21057, essv6150, essv24232, essv6294, essv12362, essv15056, essv18218, essv15836, essv12172, essv12845, essv6577, essv2985, essv18385, essv3369, essv23054, essv23453, essv20927, essv17903, essv7139, essv3881, essv7153, essv19497, essv11668
SamplesNA18621, NA12801, NA12812, NA10854, NA18547, NA19138, NA19120, NA12003, NA19161, NA18981, NA18537, NA11840, NA12249, NA19154, NA18532, NA19101, NA10856, NA18945, NA18953, NA06991, NA12864, NA12057, NA19223, NA18994, NA18609, NA19129, NA18622
Known Genes
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)esv2757932
Frequency
Sample Size270
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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