A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10251



Internal ID9607283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39759471..40194760hg38UCSC Ensembl
Innerchr1:40225143..40660432hg19UCSC Ensembl
Innerchr1:39997730..40433019hg18UCSC Ensembl
Innerchr1:39894236..40329525hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38435290
hg19435290
hg18435290
hg17435290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757730
Supporting Variants
SamplesNA19152
Known GenesBMP8B, CAP1, MFSD2A, MYCL, OXCT2, PPIE, PPT1, RLF, TRIT1
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)essv10251
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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