A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668931



Internal ID9935036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200094691..200095682hg38UCSC Ensembl
Outerchr1:200094654..200095732hg38UCSC Ensembl
Innerchr1:200063819..200064810hg19UCSC Ensembl
Outerchr1:200063782..200064860hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6151566
SamplesHG00698
Known GenesNR5A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668931
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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