A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678229



Internal ID9944334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47157754..47159908hg38UCSC Ensembl
chr1:47623426..47625580hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382155
hg192155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6168012, essv6398168, essv5685816, essv6326389, essv6382339, essv6045441, essv6549683, essv5453530, essv5564923, essv6303322
SamplesNA19055, HG00361, NA19076, NA18982, HG00590, HG00464, NA19078, HG00614, HG00280, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678229
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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