A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759176



Internal ID9634635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128338850..128718974hg38UCSC Ensembl
Innerchr3:128057693..128437817hg19UCSC Ensembl
Innerchr3:129540383..129920507hg18UCSC Ensembl
Innerchr3:129540391..129920515hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38380125
hg19380125
hg18380125
hg17380125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757888
SamplesNA18951, NA19209, NA18500, NA18563, NA18970, NA10830, NA19171
Known GenesC3orf27, DNAJB8, DNAJB8-AS1, EEFSEC, 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)esv2759176
Frequency
Sample Size270
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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