A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677550



Internal ID9596969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197260765..197264690hg38UCSC Ensembl
chr1:197229895..197233820hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383926
hg193926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5951157
SamplesNA20588
Known GenesCRB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677550
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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