A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757838



Internal ID9979915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:153506565..153664271hg38UCSC Ensembl
Innerchr2:154363078..154520784hg19UCSC Ensembl
Innerchr2:154071324..154229030hg18UCSC Ensembl
Innerchr2:154188586..154346292hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38157707
hg19157707
hg18157707
hg17157707
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759098
Supporting Variantsessv7344, essv22452, essv25007, essv18146, essv1278, essv15472, essv18721, essv14765, essv9172, essv4623, essv15330, essv15605, essv17980, essv23087, essv17500, essv15405, essv19205, essv23906, essv19893, essv6183, essv7580, essv12155, essv5530, essv6868, essv21678, essv24008, essv15146, essv489, essv9618, essv2965, essv20253, essv4792, essv10570, essv14975, essv21022, essv13512, essv19689, essv22516, essv11617, essv7226, essv8128, essv24523, essv19280, essv12676
SamplesNA19141, NA19203, NA18862, NA12814, NA18545, NA12248, NA12865, NA18870, NA12813, NA12812, NA18995, NA12802, NA18547, NA12762, NA12761, NA19137, NA19128, NA19159, NA10839, NA11993, NA18605, NA12003, NA18529, NA10838, NA18981, NA19154, NA18532, NA12264, NA19101, NA12144, NA19160, NA18570, NA11882, NA19206, NA06991, NA12716, NA18952, NA19240, NA12874, NA18594, NA18500, NA18505, NA19129, NA18620
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)esv2757838
Frequency
Sample Size270
Observed Gain31
Observed Loss13
Observed Complex0
Frequencyn/a


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