A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337169



Internal ID15184157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101234324..101234476hg38UCSC Ensembl
Innerchr2:101234374..101234426hg38UCSC Ensembl
Outerchr2:101234274..101234526hg38UCSC Ensembl
chr2:101850786..101850938hg19UCSC Ensembl
Innerchr2:101850836..101850888hg19UCSC Ensembl
Outerchr2:101850736..101850988hg19UCSC Ensembl
chr2:101217218..101217370hg18UCSC Ensembl
Innerchr2:101217268..101217320hg18UCSC Ensembl
Outerchr2:101217168..101217420hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741027
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337169
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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