A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662400



Internal ID9928505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114383108..114384420hg38UCSC Ensembl
chr1:114925730..114927042hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5430791, essv6435931
SamplesNA19007, NA19080
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662400
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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