A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672264



Internal ID9938369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21977171..22001806hg38UCSC Ensembl
chr1:22303664..22328299hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824636
hg1924636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6205107, essv5760176, essv5960075
SamplesHG00360, HG00254, HG01137
Known GenesCELA3A, CELA3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672264
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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