A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1564n100



Internal ID22787651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119034410..119062172hg38UCSC Ensembl
chr12:119472215..119499977hg19UCSC Ensembl
chr12:117956598..117984360hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3827763
hg1927763
hg1827763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041602, nsv1053209, nsv1050420
Samples
Known GenesSRRM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1564n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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