A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20250



Internal ID11037484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80659041..81736487hg38UCSC Ensembl
Innerchr17:78632841..79703517hg19UCSC Ensembl
Innerchr17:76247436..77313922hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381077447
hg191070677
hg181066487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26223
Supporting Variantsessv44210
SamplesNA12489
Known GenesAATK, AATK-AS1, ACTG1, ARL16, AZI1, BAHCC1, BAIAP2, BAIAP2-AS1, C17orf70, C17orf89, CCDC137, CHMP6, ENTHD2, FSCN2, HGS, LINC00482, LOC100130370, MIR1250, MIR3065, MIR3186, MIR338, MIR4740, MIR657, MIR6786, MRPL12, NPLOC4, OXLD1, PDE6G, RPTOR, SLC25A10, SLC38A10, TMEM105, TSPAN10
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv20250
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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