A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv300n100



Internal ID22786387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119553299..119597388hg38UCSC Ensembl
chr1:120095922..120140011hg19UCSC Ensembl
chr1:119897445..119941534hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3844090
hg1944090
hg1844090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015031, nsv1007488
Samples
Known GenesHSD3BP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv300n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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