A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658459



Internal ID9577878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203817358..203818325hg38UCSC Ensembl
chr1:203786486..203787453hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5519130, essv6538083, essv6564428, essv5839103, essv6277750, essv5885205, essv5422304, essv5406685, essv6035056, essv6269746, essv6139943, essv5410516, essv5610337, essv5553874, essv6328903, essv5982895
SamplesNA07347, HG01075, NA12828, NA19210, NA18507, NA12776, HG01140, NA12282, NA12383, HG00141, NA12761, HG00343, NA20813, NA20799, HG00138, NA19719
Known GenesZC3H11A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658459
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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