A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978842



Internal ID12979205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130999179..131430500hg38UCSC Ensembl
Innerchr4:131920334..132351655hg19UCSC Ensembl
Innerchr4:132139784..132571105hg18UCSC Ensembl
Innerchr4:132277939..132709260hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38431322
hg19431322
hg18431322
hg17431322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35031
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978842
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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