A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630228



Internal ID7017047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85010154..85081283hg38UCSC Ensembl
chr12:85403933..85475061hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3871130
hg1971129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14556638
SamplesHG01624
Known GenesLRRIQ1, TSPAN19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630228
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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