A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2674



Internal ID9624056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40106513..40333613hg38UCSC Ensembl
Innerchr19:40612420..40839520hg19UCSC Ensembl
Innerchr19:45304260..45531360hg18UCSC Ensembl
Innerchr19:45304260..45531360hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38227101
hg19227101
hg18227101
hg17227101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758499
Supporting Variants
SamplesNA18967
Known GenesAKT2, C19orf47, CNTD2, MAP3K10, MIR641, TTC9B
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)essv2674
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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