A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656994



Internal ID9576413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92719086..92720489hg38UCSC Ensembl
chr1:93184643..93186046hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381404
hg191404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6220319, essv6458626, essv6491855, essv5878978, essv6286720, essv5513755
SamplesNA18517, NA18873, NA19917, HG01048, NA18510, NA18853
Known GenesEVI5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656994
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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