A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1171



Internal ID9608903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128432755..128718974hg38UCSC Ensembl
Innerchr3:128151598..128437817hg19UCSC Ensembl
Innerchr3:129634288..129920507hg18UCSC Ensembl
Innerchr3:129634296..129920515hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38286220
hg19286220
hg18286220
hg17286220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757888
Supporting Variants
SamplesNA18951
Known GenesC3orf27, DNAJB8, DNAJB8-AS1, GATA2, LOC90246, RPN1
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)essv1171
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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