A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13n100



Internal ID20151629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3730448..3791316hg38UCSC Ensembl
chr1:3647012..3707880hg19UCSC Ensembl
chr1:3636872..3697740hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3860869
hg1960869
hg1860869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002837, nsv1004361
Samples
Known GenesCCDC27, LRRC47, SMIM1, TP73, TP73-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv13n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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