A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20625



Internal ID9618809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..196102555hg38UCSC Ensembl
Innerchr3:195379483..195829426hg19UCSC Ensembl
Innerchr3:196864664..197313823hg18UCSC Ensembl
Innerchr3:196868577..197317736hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38449944
hg19449944
hg18449160
hg17449160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA07056
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TFRC, TNK2
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)essv20625
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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