A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1572229



Internal ID12388664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2256067..2256067hg38UCSC Ensembl
chr12:2365233..2365233hg19UCSC Ensembl
chr12:2235494..2235494hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3913078
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1572229
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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