A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1573n100



Internal ID20153189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126502891..128427644hg38UCSC Ensembl
chr12:126987437..128912189hg19UCSC Ensembl
chr12:125553390..127478142hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381924754
hg191924753
hg181924753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052567, nsv1050208
Samples
Known GenesFLJ37505, LINC00507, LINC00943, LINC00944, LOC100996679, LOC101927592, LOC101927694, LOC440117, MIR3612, TMEM132C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1573n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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