A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666929



Internal ID9933034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99772459..99776522hg38UCSC Ensembl
Outerchr3:99772422..99776572hg38UCSC Ensembl
Innerchr3:99491303..99495366hg19UCSC Ensembl
Outerchr3:99491266..99495416hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384151
hg194151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5695801
SamplesNA11920
Known GenesCOL8A1, MIR548G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666929
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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