A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5557919



Internal ID8535322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165193068..165205969hg38UCSC Ensembl
chr2:166049578..166062479hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3812902
hg1912902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673049
Supporting Variants
SamplesHG00580
Known GenesSCN3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5557919
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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