A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5730216



Internal ID8916670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39386735..39529709hg38UCSC Ensembl
chr8:39244254..39387228hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38142975
hg19142975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675237
Supporting Variants
SamplesHG00418
Known GenesADAM3A, ADAM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5730216
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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