A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv188e55



Internal ID22761138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130974982..131492987hg38UCSC Ensembl
chr4:131896137..132414142hg19UCSC Ensembl
chr4:132115587..132633592hg18UCSC Ensembl
chr4:132253742..132771747hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38518006
hg19518006
hg18518006
hg17518006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752025, esv34850, esv35031
SamplesNA12751, SPC_63, NA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv188e55
Frequency
Sample Size771
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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