A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3826208



Internal ID11588977
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1150716
Supporting Variants
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3826208
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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