A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628792



Internal ID7015615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20830767..20879385hg38UCSC Ensembl
chr12:20983701..21032319hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3848619
hg1948619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv259e214
Supporting Variantsessv14405606, essv14405605
SamplesHG01531, HG00759
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628792
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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