A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669387



Internal ID2902474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197299720..197300607hg38UCSC Ensembl
chr1:197268850..197269737hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523681, essv5661278, essv5863202, essv6318508, essv6107705, essv6282484, essv5536811, essv6371600
SamplesNA19435, NA19319, NA18508, NA19374, NA19373, NA19713, NA18853, NA19779
Known GenesCRB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669387
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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