A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20n100



Internal ID22786107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12774425..12858224hg38UCSC Ensembl
chr1:12834568..12918079hg19UCSC Ensembl
chr1:12757155..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3883800
hg1983512
hg1883512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001595, nsv1008631, nsv1009348, nsv1007497, nsv1004963, nsv1014276, nsv1000550, nsv1014734
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv20n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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