A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697



Internal ID9965516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234737579..234992216hg38UCSC Ensembl
Innerchr1:234873326..235127963hg19UCSC Ensembl
Innerchr1:232939949..233194586hg18UCSC Ensembl
Innerchr1:231180061..231434698hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38254638
hg19254638
hg18254638
hg17254638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757776
Supporting Variants
SamplesNA18608
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)essv6697
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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