A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1308691



Internal ID12125127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2256032..2256032hg38UCSC Ensembl
chr12:2365198..2365198hg19UCSC Ensembl
chr12:2235459..2235459hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382700
hg192700
hg182700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4223724
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1308691
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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