A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330806



Internal ID15177796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3109873..3111171hg38UCSC Ensembl
Innerchr2:3110171..3110873hg38UCSC Ensembl
Outerchr2:3108873..3112171hg38UCSC Ensembl
chr2:3113645..3114943hg19UCSC Ensembl
Innerchr2:3113943..3114645hg19UCSC Ensembl
Outerchr2:3112645..3115943hg19UCSC Ensembl
chr2:3092652..3093950hg18UCSC Ensembl
Innerchr2:3093652..3092950hg18UCSC Ensembl
Outerchr2:3091652..3094950hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2046e59
Supporting Variantsessv8693624
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330806
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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