A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10379582



Internal ID525658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248660582..248703649hg38UCSC Ensembl
chr1:248823883..248866950hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3843068
hg1943068
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589562
Supporting Variants
SamplesHG00189
Known GenesOR14I1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10379582
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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