A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758491



Internal ID9633950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22888497..23757665hg38UCSC Ensembl
Innerchr19:23071299..23940467hg19UCSC Ensembl
Innerchr19:22863139..23732307hg18UCSC Ensembl
Innerchr19:22863139..23732307hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38869169
hg19869169
hg18869169
hg17869169
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 GenesLOC100132815, ZNF675, ZNF681, ZNF724P, ZNF728, ZNF730, ZNF91
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)esv2758491
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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