A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5478438



Internal ID9356643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238907858..238919321hg38UCSC Ensembl
Outerchr1:238907821..238919371hg38UCSC Ensembl
Innerchr1:239071158..239082621hg19UCSC Ensembl
Outerchr1:239071121..239082671hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811551
hg1911551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677263
Supporting Variants
SamplesNA18550
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5478438
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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