A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv910e59



Internal ID22762130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107462145..107463943hg38UCSC Ensembl
chr12:107855922..107857720hg19UCSC Ensembl
chr12:106380052..106381850hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3347888, esv3450282, esv3364632
SamplesNA19238, NA19239, NA19240
Known GenesBTBD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv910e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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