A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628513



Internal ID7015337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9708944..9723704hg38UCSC Ensembl
Innerchr12:9708948..9723701hg38UCSC Ensembl
Outerchr12:9708941..9723708hg38UCSC Ensembl
chr12:9861540..9876300hg19UCSC Ensembl
Innerchr12:9861544..9876297hg19UCSC Ensembl
Outerchr12:9861537..9876304hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3814761
hg1914761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14370900
SamplesNA18870
Known GenesCLECL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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