A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674002



Internal ID9593421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26931398..26934225hg38UCSC Ensembl
chr12:27084331..27087158hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg382828
hg192828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6518785, essv6411901, essv5508104
SamplesNA19469, NA19443, NA19470
Known GenesASUN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674002
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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