A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695759



Internal ID5943454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144527420..144541083hg38UCSC Ensembl
chr2:145284987..145298650hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3813664
hg1913664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592772
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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