A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4207e59



Internal ID22765427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100426418..100426936hg38UCSC Ensembl
chr8:101438646..101439164hg19UCSC Ensembl
chr8:101507822..101508340hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38519
hg19519
hg18519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3323792, esv3402857
SamplesNA12878, NA19240
Known Genes
MethodSequencing
Analysis
Platform454
SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4207e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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