A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666411



Internal ID9932516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132878790..132879887hg38UCSC Ensembl
chr3:132597634..132598731hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6327166, essv6327962, essv6296772, essv5846337, essv6198591, essv6196196, essv6072934, essv5749641
SamplesHG01060, NA19701, HG01173, NA19920, NA19782, NA18908, NA19818, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666411
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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