A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667728



Internal ID9933833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190520107..190522659hg38UCSC Ensembl
chr3:190237896..190240448hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5551482, essv5719977, essv6417523, essv6578634, essv5992030
SamplesNA20756, NA20775, NA18907, NA18632, HG00119
Known GenesIL1RAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667728
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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