A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671075



Internal ID9937180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197893671..197896915hg38UCSC Ensembl
chr2:198758395..198761639hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383245
hg193245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5781809, essv5925802, essv6401096, essv5422361, essv6319402, essv5578736, essv6417327, essv5671313, essv5834737, essv6459053, essv5864479, essv5737001, essv6135708, essv5849861, essv5723183, essv6325495, essv6292911, essv5584303
SamplesHG00143, NA11829, NA12400, HG01366, NA20795, HG00330, NA20769, NA11918, HG00158, NA12761, NA19383, HG00141, NA12778, NA12546, NA20522, HG00285, HG00638, NA20826
Known GenesPLCL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671075
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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