A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4111241



Internal ID11303948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2106907..2106907hg38UCSC Ensembl
chr12:2216073..2216073hg19UCSC Ensembl
chr12:2086334..2086334hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1158447
Supporting Variants
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4111241
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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