A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758501



Internal ID9633960
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758763
Supporting Variantsessv17754, essv9909, essv6883, essv21386, essv21266, essv9246, essv17017, essv13717, essv22369, essv4604, essv7112, essv775
SamplesNA18524, NA19145, NA19119, NA19128, NA10855, NA18605, NA10831, NA18956, NA18537, NA19144, NA12740, NA12875
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)esv2758501
Frequency
Sample Size270
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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