A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410974



Internal ID4412790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24217468..24224767hg38UCSC Ensembl
chr12:24370402..24377701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628861
Supporting Variants
SamplesHG01624
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410974
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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