A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568952



Internal ID5211082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92354247..92404560hg38UCSC Ensembl
Innerchr12:92354257..92404550hg38UCSC Ensembl
Outerchr12:92354237..92404570hg38UCSC Ensembl
chr12:92748023..92798336hg19UCSC Ensembl
Innerchr12:92748033..92798326hg19UCSC Ensembl
Outerchr12:92748013..92798346hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3850314
hg1950314
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630381
Supporting Variants
SamplesNA18619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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