A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3273



Internal ID9624722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3742002..6064670hg38UCSC Ensembl
Innerchr8:3599524..5922192hg19UCSC Ensembl
Innerchr8:3586932..5909600hg18UCSC Ensembl
Innerchr8:3586932..5909600hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382322669
hg192322669
hg182322669
hg172322669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758146
Supporting Variants
SamplesNA18972
Known GenesCSMD1
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)essv3273
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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