A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678891



Internal ID2911978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2147643..2151529hg38UCSC Ensembl
chr9:2147643..2151529hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383887
hg193887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6113240, essv5615960, essv6597008, essv6361863, essv5563142, essv5938469, essv6258803, essv6033917, essv6578294, essv6452037, essv5731919, essv6079183, essv6283709, essv5499666, essv6074769, essv5935697, essv6377632, essv5495141, essv6082010, essv6074783, essv5448957, essv6022549, essv5554382, essv6559667, essv5717479, essv5514138, essv5786526
SamplesHG01052, NA11920, HG00131, NA10847, HG01197, HG00270, NA20805, NA19701, HG00737, NA20803, HG00158, NA20801, NA11933, HG00325, HG00185, HG00249, HG00277, HG00246, HG00377, HG00138, HG00311, HG00281, HG00367, HG00119, HG00271, NA19779, HG00327
Known GenesSMARCA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678891
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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