A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3601242



Internal ID11813940
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1146701
Supporting Variants
SamplesHuRef
Known GenesSLCO1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3601242
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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