A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676342



Internal ID2909429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2141541..2142631hg38UCSC Ensembl
chr9:2141541..2142631hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6006127, essv6122490
SamplesHG00620, NA20772
Known GenesSMARCA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676342
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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