A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450382



Internal ID14950644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890505..101890505hg38UCSC Ensembl
Innerchr12:101890504..101890506hg38UCSC Ensembl
Outerchr12:101890455..101890555hg38UCSC Ensembl
chr12:102284283..102284283hg19UCSC Ensembl
Innerchr12:102284282..102284284hg19UCSC Ensembl
Outerchr12:102284233..102284333hg19UCSC Ensembl
chr12:100808414..100808414hg18UCSC Ensembl
Innerchr12:100808415..100808413hg18UCSC Ensembl
Outerchr12:100808364..100808464hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701276
SamplesNA12878
Known GenesDRAM1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450382
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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