A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649595



Internal ID3780784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132567057..132600135hg38UCSC Ensembl
chr12:133143643..133176721hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3833079
hg1933079
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631303
Supporting Variants
SamplesHG03432
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649595
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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