A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758593



Internal ID9634052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135468612..136072582hg38UCSC Ensembl
InnerchrX:134602537..135154741hg19UCSC Ensembl
InnerchrX:134430203..134982407hg18UCSC Ensembl
InnerchrX:134328057..134880261hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38603971
hg19552205
hg18552205
hg17552205
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758895
Supporting Variantsessv22876, essv15834, essv22039, essv9321, essv3524, essv13719, essv16918, essv8928, essv24908, essv12288, essv4669, essv13552, essv17171, essv24688, essv20434, essv22142, essv12965, essv401, essv7851, essv22946, essv8306, essv11750, essv12253, essv13751, essv23487, essv13860, essv3985, essv16774, essv16647, essv12837, essv6375, essv22658, essv16008, essv20882, essv12738, essv3222, essv11696, essv18951, essv12517, essv9227
SamplesNA11829, NA12801, NA18504, NA10857, NA07357, NA19171, NA19119, NA18558, NA19138, NA12005, NA18970, NA19207, NA19128, NA19200, NA12760, NA12752, NA19120, NA18859, NA19103, NA18572, NA19142, NA10830, NA19154, NA18853, NA19101, NA19160, NA18974, NA18914, NA19144, NA18501, NA06994, NA18971, NA19223, NA18854, NA18872, NA12154, NA07034, NA18622, NA19153, NA18965
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, DDX26B, MMGT1, SAGE1, SLC9A6
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)esv2758593
Frequency
Sample Size270
Observed Gain37
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer