A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5869920



Internal ID8847323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199447732..199447956hg38UCSC Ensembl
chr2:200312455..200312679hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670764
Supporting Variants
SamplesNA20771
Known GenesSATB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5869920
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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