A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1527n100



Internal ID22787614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73906179..74031669hg38UCSC Ensembl
chr12:74299959..74425449hg19UCSC Ensembl
chr12:72586226..72711716hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38125491
hg19125491
hg18125491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047932, nsv1041875, nsv1051343, nsv1037477, nsv1044954
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1527n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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