A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671121



Internal ID9937226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28579555..28579902hg38UCSC Ensembl
chr1:28906067..28906414hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6295781, essv6383136, essv6334657, essv6479047, essv6006760
SamplesNA19394, NA18861, NA19704, NA19917, NA19391
Known GenesSNHG12, SNORA61
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671121
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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