A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670554



Internal ID14710112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14843265..14843775hg38UCSC Ensembl
Innerchr12:14843274..14843766hg38UCSC Ensembl
Outerchr12:14843256..14843784hg38UCSC Ensembl
chr12:14996199..14996709hg19UCSC Ensembl
Innerchr12:14996208..14996700hg19UCSC Ensembl
Outerchr12:14996190..14996718hg19UCSC Ensembl
chr12:14887466..14887976hg18UCSC Ensembl
Innerchr12:14887475..14887967hg18UCSC Ensembl
Outerchr12:14887457..14887985hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38511
hg19511
hg18511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3437825
Supporting Variants
SamplesNA19239
Known GenesART4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670554
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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