A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758375



Internal ID9633834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31474097..32694378hg38UCSC Ensembl
Innerchr15:31766300..32986579hg19UCSC Ensembl
Innerchr15:29553592..30773871hg18UCSC Ensembl
Innerchr15:29553592..30773871hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg381220282
hg191220280
hg181220280
hg171220280
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760023
Supporting Variantsessv11678, essv20962, essv8436, essv1948, essv23798, essv2186, essv14200, essv18345, essv1341, essv14429, essv15869, essv12331, essv6973, essv20424, essv17785, essv16805, essv16252, essv11888, essv17817, essv24582, essv19657, essv13809, essv808, essv13595, essv19919, essv5729, essv14977, essv13060, essv4256, essv12463, essv5047, essv24294, essv12449, essv10783, essv22063, essv10252, essv24746, essv21221, essv19091, essv19612, essv21316, essv15753, essv4247, essv13139, essv7426, essv9474, essv24224, essv15892, essv23218, essv12200, essv21211, essv5225, essv2583, essv11635, essv22414, essv10437, essv8209, essv17651, essv14547, essv19930, essv5102, essv22382, essv3058, essv11125, essv10825, essv13684, essv16643, essv9973, essv7761, essv9065, essv21143, essv19199
SamplesNA19142, NA10831, NA11881, NA19207, NA18870, NA12154, NA19127, NA19152, NA18871, NA12801, NA18523, NA12875, NA12264, NA19223, NA12815, NA18603, NA18516, NA12813, NA18542, NA19208, NA12865, NA19140, NA19161, NA12763, NA19211, NA11994, NA12155, NA18576, NA18960, NA18623, NA18990, NA18959, NA18973, NA18593, NA19153, NA18515, NA19102, NA19119, NA19154, NA10856, NA19221, NA19131, NA18582, NA07055, NA19138, NA10860, NA19101, NA19201, NA18872, NA12156, NA19116, NA19132, NA10830, NA18577, NA19099, NA12878, NA11830, NA11992, NA18852, NA18611, NA18981, NA19007, NA19202, NA10861
Known GenesARHGAP11A, CHRNA7, GOLGA8K, GOLGA8O, GOLGA8R, LOC100996255, OTUD7A, SCG5, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)esv2758375
Frequency
Sample Size270
Observed Gain6
Observed Loss61
Observed Complex0
Frequencyn/a


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