A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv302n100



Internal ID22786389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119564979..119605792hg38UCSC Ensembl
chr1:120107602..120148415hg19UCSC Ensembl
chr1:119909125..119949938hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3840814
hg1940814
hg1840814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011283, nsv1000225, nsv1007381, nsv1003595, nsv1013162, nsv1014066, nsv1000172, nsv1004359
Samples
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv302n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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