A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757769



Internal ID9633228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207384550..207751722hg38UCSC Ensembl
Innerchr1:207557895..207925067hg19UCSC Ensembl
Innerchr1:205624518..205991690hg18UCSC Ensembl
Innerchr1:203946290..204313462hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38367173
hg19367173
hg18367173
hg17367173
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758993
Supporting Variantsessv9605, essv20595, essv20075, essv22148, essv16056, essv23368
SamplesNA19141, NA10857, NA12750, NA07048, NA18501, NA07056
Known GenesCR1, CR1L, CR2
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)esv2757769
Frequency
Sample Size270
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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