A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624784



Internal ID4396165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126249820..126388933hg38UCSC Ensembl
chr12:126734366..126873479hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38139114
hg19139114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631059
Supporting Variants
SamplesHG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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