A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056



Internal ID9613732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207384550..207579739hg38UCSC Ensembl
Innerchr1:207557895..207753084hg19UCSC Ensembl
Innerchr1:205624518..205819707hg18UCSC Ensembl
Innerchr1:203946290..204141479hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38195190
hg19195190
hg18195190
hg17195190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757769
Supporting Variants
SamplesNA18501
Known GenesCR1, 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)essv16056
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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