A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981508



Internal ID12625533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114368240..114690240hg38UCSC Ensembl
Innerchr4:115289396..115611396hg19UCSC Ensembl
Innerchr4:115508845..115830845hg18UCSC Ensembl
Innerchr4:115647000..115969000hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38322001
hg19322001
hg18322001
hg17322001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752021
Supporting Variants
SamplesBEC_287
Known GenesMIR577, UGT8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981508
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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