A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10472



Internal ID9962431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110123539..110272175hg38UCSC Ensembl
Innerchr7:109763596..109912232hg19UCSC Ensembl
Innerchr7:109550832..109699468hg18UCSC Ensembl
Innerchr7:109357547..109506183hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38148637
hg19148637
hg18148637
hg17148637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758128
Supporting Variants
SamplesNA18515
Known Genes
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)essv10472
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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