A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15045



Internal ID9612609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47354499..47522248hg38UCSC Ensembl
Innerchr19:47857756..48025505hg19UCSC Ensembl
Innerchr19:52549596..52717317hg18UCSC Ensembl
Innerchr19:52549596..52717317hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38167750
hg19167750
hg18167722
hg17167722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758502
Supporting Variants
SamplesNA19129
Known GenesDHX34, KPTN, MEIS3, NAPA, NAPA-AS1, SLC8A2, ZNF541
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)essv15045
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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