A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383935



Internal ID15230905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122762566..122762585hg38UCSC Ensembl
Innerchr2:122762562..122762589hg38UCSC Ensembl
Outerchr2:122762543..122762608hg38UCSC Ensembl
chr2:123520142..123520161hg19UCSC Ensembl
Innerchr2:123520138..123520165hg19UCSC Ensembl
Outerchr2:123520119..123520184hg19UCSC Ensembl
chr2:123236612..123236631hg18UCSC Ensembl
Innerchr2:123236635..123236608hg18UCSC Ensembl
Outerchr2:123236589..123236654hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9603768, essv9603780
SamplesNA19141, NA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383935
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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