A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979626



Internal ID12980491
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 StatusS
Merged Variantsesv34203
Supporting Variants
SamplesNA18582
Known GenesMIR583
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979626
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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