A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv271e199



Internal ID20123573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27089700..27631451hg38UCSC Ensembl
chr12:27242633..27784384hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38541752
hg19541752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670275, esv2665044
SamplesNA12249, NA12763, NA18487
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv271e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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