A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593246



Internal ID6633526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166102011..166117256hg38UCSC Ensembl
chr2:166958521..166973766hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3815246
hg1915246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10747401
SamplesHG03660
Known GenesSCN1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593246
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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