A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10011481



Internal ID13297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89719512..89859444hg38UCSC Ensembl
chr1:90185071..90325003hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38139933
hg19139933
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586772
Supporting Variants
SamplesHG03112
Known GenesLRRC8C, LRRC8D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10011481
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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