A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335133



Internal ID14835406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165197588..165197603hg38UCSC Ensembl
Innerchr2:165197590..165197601hg38UCSC Ensembl
Outerchr2:165197586..165197605hg38UCSC Ensembl
chr2:166054098..166054113hg19UCSC Ensembl
Innerchr2:166054100..166054111hg19UCSC Ensembl
Outerchr2:166054096..166054115hg19UCSC Ensembl
chr2:165762344..165762359hg18UCSC Ensembl
Innerchr2:165762346..165762357hg18UCSC Ensembl
Outerchr2:165762342..165762361hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864041
SamplesNA12005
Known GenesSCN3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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