A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14596772



Internal ID4598588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103938328..103942857hg38UCSC Ensembl
chr12:104332106..104336635hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384530
hg194530
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630621
Supporting Variants
SamplesHG01864
Known GenesHSP90B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14596772
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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