A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14517237



Internal ID4519053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66219694..66232299hg38UCSC Ensembl
Innerchr12:66219716..66232277hg38UCSC Ensembl
Outerchr12:66219672..66232321hg38UCSC Ensembl
chr12:66613474..66626079hg19UCSC Ensembl
Innerchr12:66613496..66626057hg19UCSC Ensembl
Outerchr12:66613452..66626101hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3812606
hg1912606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629799
Supporting Variants
SamplesHG00982
Known GenesIRAK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14517237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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