A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5458248



Internal ID9869048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151163931..151165887hg38UCSC Ensembl
Outerchr6:151163560..151166607hg38UCSC Ensembl
Innerchr6:151485066..151487022hg19UCSC Ensembl
Outerchr6:151484695..151487742hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663418
Supporting Variants
SamplesNA20540
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5458248
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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