A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4604



Internal ID9626201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42538595..42931292hg38UCSC Ensembl
Innerchr19:43042747..43435444hg19UCSC Ensembl
Innerchr19:47734587..48127284hg18UCSC Ensembl
Innerchr19:47734587..48127284hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38392698
hg19392698
hg18392698
hg17392698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758501
Supporting Variants
SamplesNA18524
Known GenesCEACAM8, LIPE-AS1, LOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG7, PSG8
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)essv4604
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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