A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1439292



Internal ID12255728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105694..2106013hg38UCSC Ensembl
chr12:2214860..2215179hg19UCSC Ensembl
chr12:2085121..2085440hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4095448
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1439292
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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