A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5518749



Internal ID9908122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100364448..100365407hg38UCSC Ensembl
Outerchr8:100364411..100365457hg38UCSC Ensembl
Innerchr8:101376676..101377635hg19UCSC Ensembl
Outerchr8:101376639..101377685hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668601
Supporting Variants
SamplesNA20803
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5518749
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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