A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17249



Internal ID9615057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131521008..131699036hg38UCSC Ensembl
Innerchr2:132278581..132456609hg19UCSC Ensembl
Innerchr2:131995051..132173079hg18UCSC Ensembl
Innerchr2:132112313..132290341hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38178029
hg19178029
hg18178029
hg17178029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18503
Known GenesCCDC74A, LINC01087, LOC150776, POTEKP, RNU6-81P
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)essv17249
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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