A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547938



Internal ID4549755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80085223..80150529hg38UCSC Ensembl
chr12:80479003..80544309hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3865307
hg1965307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630101
Supporting Variants
SamplesHG00593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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