A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422489



Internal ID7906586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143510941..144038942hg38UCSC Ensembl
Innerchr7:143208034..143736035hg19UCSC Ensembl
Innerchr7:142918156..143366968hg18UCSC Ensembl
Innerchr7:142724871..143173683hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38528002
hg19528002
hg18448813
hg17448813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161421
SamplesND04045
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761, OR2F1, OR2F2, OR6B1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422489
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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