A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593248



Internal ID6633528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166396512..166417359hg38UCSC Ensembl
chr2:167253022..167273869hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3820848
hg1920848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10747576
SamplesNA19670
Known GenesSCN7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593248
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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