A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6497318



Internal ID9599980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125556878..125561719hg38UCSC Ensembl
Outerchr8:125556841..125561769hg38UCSC Ensembl
Innerchr8:126569122..126573963hg19UCSC Ensembl
Outerchr8:126569085..126574013hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384929
hg194929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656568
Supporting Variants
SamplesNA19236
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6497318
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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