A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736150



Internal ID14812048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118136477..118136478hg38UCSC Ensembl
Outerchr2:118136321..118136634hg38UCSC Ensembl
Innerchr2:118894053..118894054hg19UCSC Ensembl
Outerchr2:118893897..118894210hg19UCSC Ensembl
Innerchr2:118610524..118610523hg18UCSC Ensembl
Outerchr2:118610367..118610680hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38314
hg19314
hg18314
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302908
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736150
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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