A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1470n100



Internal ID22787557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37572505..38120104hg38UCSC Ensembl
chr12:37966307..38513906hg19UCSC Ensembl
chr12:36252574..36800173hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38547600
hg19547600
hg18547600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048489, nsv1039413, nsv1041312, nsv1051196, nsv1036596, nsv1049306, nsv1044076, nsv1040069, nsv1052311, nsv1041403, nsv1047523, nsv1049294, nsv1053664, nsv1046320, nsv1036268, nsv1050465, nsv1041426
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)dgv1470n100
Frequency
Sample Size11257
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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