A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4063n100



Internal ID22790150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123903724..123955583hg38UCSC Ensembl
chr2:124661301..124713160hg19UCSC Ensembl
chr2:124377771..124429630hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851860
hg1951860
hg1851860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007134, nsv997536
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4063n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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