A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673519



Internal ID9939624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124132820..124134670hg38UCSC Ensembl
Outerchr8:124132783..124134720hg38UCSC Ensembl
Innerchr8:125145061..125146911hg19UCSC Ensembl
Outerchr8:125145024..125146961hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5913790
SamplesNA11992
Known GenesFER1L6-AS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673519
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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