A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678364



Internal ID9944469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67630037..67632024hg38UCSC Ensembl
chr12:68023817..68025804hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5908740
SamplesNA12383
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678364
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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