A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675544



Internal ID9941649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47546162..47547648hg38UCSC Ensembl
Outerchr8:47546125..47547698hg38UCSC Ensembl
Innerchr8:48458724..48460210hg19UCSC Ensembl
Outerchr8:48458687..48460260hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381574
hg191574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639339
SamplesNA19703
Known GenesSPIDR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675544
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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