A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661424



Internal ID9580843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78628933..78631762hg38UCSC Ensembl
Outerchr1:78628775..78631915hg38UCSC Ensembl
Innerchr1:79094618..79097447hg19UCSC Ensembl
Outerchr1:79094460..79097600hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6241918, essv6075975
SamplesHG01357, HG01137
Known GenesIFI44L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661424
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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