A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451203



Internal ID15298150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206301968..206301993hg38UCSC Ensembl
Innerchr2:206301970..206301991hg38UCSC Ensembl
Outerchr2:206301966..206301995hg38UCSC Ensembl
chr2:207166692..207166717hg19UCSC Ensembl
Innerchr2:207166694..207166715hg19UCSC Ensembl
Outerchr2:207166690..207166719hg19UCSC Ensembl
chr2:206874937..206874962hg18UCSC Ensembl
Innerchr2:206874939..206874960hg18UCSC Ensembl
Outerchr2:206874935..206874964hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864083
SamplesNA12005
Known GenesZDBF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451203
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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