A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758490



Internal ID9633949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21802686..22888497hg38UCSC Ensembl
Innerchr19:21985488..23071299hg19UCSC Ensembl
Innerchr19:21777328..22863139hg18UCSC Ensembl
Innerchr19:21777328..22863139hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381085812
hg191085812
hg181085812
hg171085812
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758750
Supporting Variantsessv21861, essv17031, essv9943
SamplesNA19145, NA11839, NA19144
Known GenesLOC100996349, LOC440518, ZNF208, ZNF257, ZNF43, ZNF492, ZNF676, ZNF729, ZNF98, ZNF99
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)esv2758490
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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