A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758392



Internal ID9633851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84046870..84526690hg38UCSC Ensembl
Innerchr15:84715622..85069921hg19UCSC Ensembl
Innerchr15:82506626..82870925hg18UCSC Ensembl
Innerchr15:82506626..82870925hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38479821
hg19354300
hg18364300
hg17364300
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760048
Supporting Variantsessv7582, essv12269, essv24657, essv19236, essv10144, essv1861, essv5250, essv130, essv23561, essv10274, essv15827, essv17739, essv16642, essv4569, essv7207, essv23512, essv12803, essv20103, essv15679, essv19546, essv14325, essv5602, essv18255, essv10828, essv12966, essv20762, essv441, essv9082, essv9114, essv20950
SamplesNA11829, NA18524, NA18545, NA12801, NA12146, NA10846, NA18860, NA18547, NA07048, NA06993, NA19130, NA19120, NA19194, NA12872, NA18859, NA18529, NA18871, NA18976, NA10838, NA19142, NA18912, NA19101, NA19132, NA18952, NA12864, NA19223, NA18506, NA18968, NA18624, NA07034
Known GenesDNM1P41, EFTUD1P1, GOLGA6L4, GOLGA6L5P, LOC100505679, LOC388152, LOC440300, LOC642423
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)esv2758392
Frequency
Sample Size270
Observed Gain26
Observed Loss4
Observed Complex0
Frequencyn/a


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