A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677279



Internal ID9943384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14292726..14295946hg38UCSC Ensembl
chr1:14619221..14622441hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983468, essv6171442, essv5825058
SamplesNA19445, NA19453, NA19435
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677279
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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