A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9943



Internal ID9632132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22804881..23539424hg38UCSC Ensembl
Innerchr19:22987683..23722226hg19UCSC Ensembl
Innerchr19:22779523..23514066hg18UCSC Ensembl
Innerchr19:22779523..23514066hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38734544
hg19734544
hg18734544
hg17734544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758491, esv2758490
Supporting Variants
SamplesNA19145
Known GenesLOC100132815, 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)essv9943
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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