A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv323e199



Internal ID22758096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122149925..122166005hg38UCSC Ensembl
chr12:122634472..122650552hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816081
hg1916081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664257, esv2659901
SamplesNA19466, HG01250, HG01095, NA19982, NA19248, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv323e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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