A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1570n100



Internal ID20153186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126387289..126747350hg38UCSC Ensembl
chr12:126871835..127231896hg19UCSC Ensembl
chr12:125437788..125797849hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38360062
hg19360062
hg18360062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043069, nsv1052818, nsv1046610
Samples
Known GenesLINC00943, LINC00944, LOC100128554
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1570n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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