A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676986



Internal ID9943091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160177660..160182082hg38UCSC Ensembl
chr3:159895447..159899869hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384423
hg194423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6458492, essv5828649, essv6240217, essv5400613
SamplesNA19347, NA19452, NA19436, NA19376
Known GenesIL12A-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676986
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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