A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1150716



Internal ID11967153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2106054..2106320hg38UCSC Ensembl
chr12:2215220..2215486hg19UCSC Ensembl
chr12:2085481..2085747hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3826208
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1150716
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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