A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1501n100



Internal ID22787588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52237529..52281537hg38UCSC Ensembl
chr12:52631313..52675321hg19UCSC Ensembl
chr12:50917580..50961588hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3844009
hg1944009
hg1844009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048603, nsv1044481
Samples
Known GenesKRT7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1501n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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