A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302868



Internal ID15149816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227376393..227393673hg38UCSC Ensembl
Innerchr2:227376493..227393573hg38UCSC Ensembl
Outerchr2:227376293..227393773hg38UCSC Ensembl
chr2:228241109..228258389hg19UCSC Ensembl
Innerchr2:228241209..228258289hg19UCSC Ensembl
Outerchr2:228241009..228258489hg19UCSC Ensembl
chr2:227949353..227966633hg18UCSC Ensembl
Innerchr2:227949453..227966533hg18UCSC Ensembl
Outerchr2:227949253..227966733hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3817281
hg1917281
hg1817281
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738849, essv7736714, essv7734245, essv7732797, essv7734363, essv7738181, essv7733226, essv7736301, essv7738298, essv7733321, essv7738254
SamplesNA12717, NA11830, NA11995, NA11829, NA12004, NA12750, NA11894, NA12249, NA07037, NA12749, NA12154
Known GenesTM4SF20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302868
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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