A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669139



Internal ID9935244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136306964..136307932hg38UCSC Ensembl
chr8:137319207..137320175hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6261691
SamplesNA20582
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669139
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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