A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767



Internal ID9964163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189387138..189544084hg38UCSC Ensembl
Innerchr1:189356268..189513214hg19UCSC Ensembl
Innerchr1:187622891..187779837hg18UCSC Ensembl
Innerchr1:186087925..186244871hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38156947
hg19156947
hg18156947
hg17156947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757763
Supporting Variants
SamplesNA18562
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)essv6767
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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