A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670946



Internal ID9937051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12105995..12108726hg38UCSC Ensembl
Outerchr1:12105838..12108879hg38UCSC Ensembl
Innerchr1:12166052..12168783hg19UCSC Ensembl
Outerchr1:12165895..12168936hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383042
hg193042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6516150
SamplesHG00136
Known GenesTNFRSF8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670946
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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