A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985590



Internal ID12625548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114527416..114689927hg38UCSC Ensembl
Innerchr4:115448572..115611083hg19UCSC Ensembl
Innerchr4:115668021..115830532hg18UCSC Ensembl
Innerchr4:115806176..115968687hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38162512
hg19162512
hg18162512
hg17162512
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)essv6985590
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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