A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv303n100



Internal ID22786390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119564979..119606894hg38UCSC Ensembl
chr1:120107602..120149517hg19UCSC Ensembl
chr1:119909125..119951040hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3841916
hg1941916
hg1841916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011721, nsv997352, nsv998903, nsv1010534
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)dgv303n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss8
Observed Complex0
Frequencyn/a


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