A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5584286



Internal ID8561689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192168815..192169257hg38UCSC Ensembl
Outerchr1:192168778..192169307hg38UCSC Ensembl
Innerchr1:192137945..192138387hg19UCSC Ensembl
Outerchr1:192137908..192138437hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663862
Supporting Variants
SamplesNA19147
Known GenesRGS18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5584286
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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