A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17031



Internal ID9614816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22800324..23757665hg38UCSC Ensembl
Innerchr19:22983126..23940467hg19UCSC Ensembl
Innerchr19:22774966..23732307hg18UCSC Ensembl
Innerchr19:22774966..23732307hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38957342
hg19957342
hg18957342
hg17957342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758491, esv2758490
Supporting Variants
SamplesNA19144
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)essv17031
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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