A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1550n100



Internal ID19011918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99579755..99632596hg38UCSC Ensembl
chr12:99973533..100026374hg19UCSC Ensembl
chr12:98497664..98550505hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3852842
hg1952842
hg1852842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051476, nsv1046752, nsv1049060, nsv1037995
Samples
Known GenesANKS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1550n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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