A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1146701



Internal ID11963138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21311855..21311855hg38UCSC Ensembl
chr12:21464789..21464789hg19UCSC Ensembl
chr12:21356056..21356056hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3601242
SamplesHuRef
Known GenesSLCO1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1146701
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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