A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14475499



Internal ID5254855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48278450..48307432hg38UCSC Ensembl
chr12:48672233..48701215hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3828983
hg1928983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629432
Supporting Variants
SamplesNA18635
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14475499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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