A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410193



Internal ID1645847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23000710..23004709hg38UCSC Ensembl
chr12:23153644..23157643hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628842
Supporting Variants
SamplesHG01515
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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