A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628799



Internal ID6668941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20916259..21333930hg38UCSC Ensembl
chr12:21069193..21486864hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38417672
hg19417672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406005, essv14406004
SamplesHG01531, HG03856
Known GenesSLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628799
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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