A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747379



Internal ID18374939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2132835..2148830hg38UCSC Ensembl
Outerchr12:2129335..2149834hg38UCSC Ensembl
Innerchr12:2242001..2257996hg19UCSC Ensembl
Outerchr12:2238501..2259000hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820500
hg1920500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548632
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747379
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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