A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752021



Internal ID12638887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114368240..114698514hg38UCSC Ensembl
Innerchr4:115289396..115619670hg19UCSC Ensembl
Innerchr4:115508845..115839119hg18UCSC Ensembl
Innerchr4:115647000..115977274hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38330275
hg19330275
hg18330275
hg17330275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985590, essv6981509, essv6981508
SamplesBEC_287
Known GenesMIR577, UGT8
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)esv2752021
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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