A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14625840



Internal ID2473490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126376969..126454930hg38UCSC Ensembl
chr12:126861515..126939476hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3877962
hg1977962
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631065
Supporting Variants
SamplesHG02181
Known GenesLOC100128554
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14625840
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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