A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688572



Internal ID14698307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120220666..120222864hg38UCSC Ensembl
Innerchr12:120221666..120221864hg38UCSC Ensembl
Outerchr12:120219666..120223864hg38UCSC Ensembl
chr12:120658469..120660667hg19UCSC Ensembl
Innerchr12:120659469..120659667hg19UCSC Ensembl
Outerchr12:120657469..120661667hg19UCSC Ensembl
chr12:119142852..119145050hg18UCSC Ensembl
Innerchr12:119143852..119144050hg18UCSC Ensembl
Outerchr12:119141852..119146050hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3448120
Supporting Variants
SamplesNA19239
Known GenesPXN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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