A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758310



Internal ID9633769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57435950..57608085hg38UCSC Ensembl
Innerchr12:57829733..58001868hg19UCSC Ensembl
Innerchr12:56116000..56288135hg18UCSC Ensembl
Innerchr12:56116000..56288135hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38172136
hg19172136
hg18172136
hg17172136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759901
Supporting Variantsessv14160, essv10316, essv9116, essv15743, essv16685, essv9042, essv12799, essv13879, essv9825, essv14541, essv14446, essv15813, essv1130, essv9393, essv12222, essv1754, essv10445, essv1818, essv14282, essv8804, essv15049, essv10578, essv2546, essv5397, essv8615, essv7556, essv13014, essv14066, essv9214, essv2606, essv4250, essv5579, essv2457, essv17129, essv16939, essv5465, essv12603
SamplesNA18861, NA18508, NA18999, NA18603, NA18545, NA19098, NA18563, NA19171, NA19201, NA18860, NA19131, NA18964, NA19128, NA18990, NA19239, NA19120, NA19194, NA18859, NA18515, NA18529, NA18976, NA19202, NA19142, NA18853, NA19101, NA19132, NA19003, NA18632, NA18863, NA19140, NA19240, NA19144, NA19223, NA18506, NA18854, NA19129, NA18997
Known GenesARHGAP9, DCTN2, DDIT3, DTX3, GLI1, INHBC, INHBE, KIF5A, MARS, MBD6, MIR6758, PIP4K2C
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)esv2758310
Frequency
Sample Size270
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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