A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7291589



Internal ID10569871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168749621..168749697hg38UCSC Ensembl
chr2:169606131..169606207hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3022022
Supporting Variants
SamplesHuRef
Known GenesCERS6
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7291589
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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