A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677761



Internal ID9943866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49301395..49304013hg38UCSC Ensembl
chr8:50213954..50216572hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643270, essv5910030
SamplesHG00736, NA19455
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677761
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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