A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421419



Internal ID7905181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231399838..231406910hg38UCSC Ensembl
Innerchr1:231535584..231542656hg19UCSC Ensembl
Innerchr1:229602207..229609279hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg387073
hg197073
hg187073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5093066, essv5023159, essv5143535, essv5107991, essv5149901, essv5037618, essv5104034, essv5155297, essv5133249, essv5036200, essv5156599, essv5138588
SamplesNA17983, NA19072, NA18153, NA18566, NA18150, NA18536, NA17972, NA18942, NA18694, NA18955, NA17980, NA18614
Known GenesEGLN1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421419
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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