A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24n100



Internal ID20151640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12778589..12832443hg38UCSC Ensembl
chr1:12838732..12892297hg19UCSC Ensembl
chr1:12761319..12814884hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853855
hg1953566
hg1853566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998574, nsv1002449
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv24n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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