A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675706



Internal ID9941811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100654389..100656807hg38UCSC Ensembl
chr1:101119945..101122363hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6559875, essv5521726, essv5674428, essv5752811, essv6428969, essv6494046, essv5439481, essv5408912, essv5432050, essv6177450, essv5609931, essv6429402, essv5739086, essv5423527, essv6288970, essv6244783, essv6312643, essv5633061, essv6121289, essv5484364, essv5561153
SamplesNA18502, NA18508, NA19704, NA18504, NA19190, NA19098, NA18870, NA19171, NA19379, NA19130, NA18868, NA18908, NA19114, NA18858, NA19440, NA19834, NA19256, HG01108, NA18873, NA19116, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675706
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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