A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883



Internal ID9628732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42538595..43394901hg38UCSC Ensembl
Innerchr19:43042747..43899053hg19UCSC Ensembl
Innerchr19:47734587..48590893hg18UCSC Ensembl
Innerchr19:47734587..48590893hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38856307
hg19856307
hg18856307
hg17856307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758501
Supporting Variants
SamplesNA18605
Known GenesCD177, CEACAM8, LIPE-AS1, LOC100289650, LOC284344, PRG1, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, TEX101
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)essv6883
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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