A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665909



Internal ID9585328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32278699..32288781hg38UCSC Ensembl
chr12:32431633..32441715hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3810083
hg1910083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5896370
SamplesNA19982
Known GenesBICD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665909
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