A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658961



Internal ID9578380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2132008..2148830hg38UCSC Ensembl
chr12:2241174..2257996hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816823
hg1916823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6308889
SamplesHG00114
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658961
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer