A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10378307



Internal ID397065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248593440..248634296hg38UCSC Ensembl
chr1:248756741..248797597hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3840857
hg1940857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589559
Supporting Variants
SamplesHG00117
Known GenesOR2T10, OR2T11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10378307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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