A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619049



Internal ID4620865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121279940..121281295hg38UCSC Ensembl
Innerchr12:121279988..121281247hg38UCSC Ensembl
Outerchr12:121279892..121281343hg38UCSC Ensembl
chr12:121717743..121719098hg19UCSC Ensembl
Innerchr12:121717791..121719050hg19UCSC Ensembl
Outerchr12:121717695..121719146hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630945
Supporting Variants
SamplesHG04098
Known GenesCAMKK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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