A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674738



Internal ID9940843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93024147..93026055hg38UCSC Ensembl
Outerchr12:93024110..93026105hg38UCSC Ensembl
Innerchr12:93417923..93419831hg19UCSC Ensembl
Outerchr12:93417886..93419881hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6429176
SamplesNA19256
Known GenesLOC643339
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674738
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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