A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9656



Internal ID9631813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195879004..196102555hg38UCSC Ensembl
Innerchr3:195605875..195829426hg19UCSC Ensembl
Innerchr3:197090272..197313823hg18UCSC Ensembl
Innerchr3:197094185..197317736hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38223552
hg19223552
hg18223552
hg17223552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA18913
Known GenesMIR6829, SDHAP1, 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)essv9656
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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