A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568848



Internal ID5943831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91986297..92030955hg38UCSC Ensembl
chr12:92380073..92424731hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3844659
hg1944659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630370
Supporting Variants
SamplesNA19355
Known GenesC12orf79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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