A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665370



Internal ID9931475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167509787..167510706hg38UCSC Ensembl
Outerchr1:167509750..167510756hg38UCSC Ensembl
Innerchr1:167479024..167479943hg19UCSC Ensembl
Outerchr1:167478987..167479993hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6591580
SamplesNA19776
Known GenesCD247
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665370
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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