A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672763



Internal ID9592182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154233510..154233936hg38UCSC Ensembl
chr1:154205986..154206412hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5908892, essv6497805, essv5877687, essv6094184, essv6374795, essv6284798, essv6503545, essv6122833, essv5423149, essv6459933, essv6025022, essv6223049, essv6566221
SamplesNA19701, NA19399, NA19359, NA19904, NA19385, NA19901, NA19982, NA18871, NA19436, NA19334, NA18501, NA18873, NA19213
Known GenesUBAP2L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672763
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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