A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671083



Internal ID9590502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86573590..86574922hg38UCSC Ensembl
chr3:86622740..86624072hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg381333
hg191333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5864794, essv6209695, essv5854148, essv5599002, essv5680235, essv6204562, essv5640663, essv5562583, essv6294984
SamplesNA19359, NA19446, NA19373, NA19382, NA19371, NA19317, NA19257, NA19473, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671083
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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