A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6484792



Internal ID9422266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123755488..123762395hg38UCSC Ensembl
Outerchr8:123755331..123762548hg38UCSC Ensembl
Innerchr8:124767728..124774635hg19UCSC Ensembl
Outerchr8:124767571..124774788hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387218
hg197218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661173
Supporting Variants
SamplesNA18622
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6484792
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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