A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517441



Internal ID5134094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57554641..57585451hg38UCSC Ensembl
chr2:57781776..57812586hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830811
hg1930811
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590939
Supporting Variants
SamplesNA18570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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