A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20595



Internal ID9618775
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757769
Supporting Variants
SamplesNA07056
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)essv20595
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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