A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34203



Internal ID12990242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95975281..96116620hg38UCSC Ensembl
Innerchr5:95310985..95452324hg19UCSC Ensembl
Innerchr5:95336741..95478080hg18UCSC Ensembl
Innerchr5:95336741..95478080hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38141340
hg19141340
hg18141340
hg17141340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979626, essv6990389
SamplesNA18582
Known GenesMIR583
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34203
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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