A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1201



Internal ID9969276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46332711..46737090hg38UCSC Ensembl
Innerchr10:46812527..47225397hg19UCSC Ensembl
Innerchr10:46232533..46645403hg18UCSC Ensembl
Innerchr10:46232533..46645403hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38404380
hg19412871
hg18412871
hg17412871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA18951
Known GenesAGAP9, ANXA8, FAM25C, FAM25G, FAM35BP, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)essv1201
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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