A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757898



Internal ID9633357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151757492..151945387hg38UCSC Ensembl
Innerchr3:151475280..151663175hg19UCSC Ensembl
Innerchr3:152957970..153145865hg18UCSC Ensembl
Innerchr3:152957978..153145873hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38187896
hg19187896
hg18187896
hg17187896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759189
Supporting Variantsessv24674
SamplesNA11829
Known GenesAADAC, AADACL2, LOC201651, MIR548H2, SUCNR1
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)esv2757898
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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