A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651851



Internal ID15100089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132742499..132742880hg38UCSC Ensembl
Innerchr12:132742499..132742880hg38UCSC Ensembl
Outerchr12:132742315..132742997hg38UCSC Ensembl
chr12:133319085..133319466hg19UCSC Ensembl
Innerchr12:133319085..133319466hg19UCSC Ensembl
Outerchr12:133318901..133319583hg19UCSC Ensembl
chr12:131829158..131829539hg18UCSC Ensembl
Innerchr12:131829158..131829539hg18UCSC Ensembl
Outerchr12:131828974..131829656hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38382
hg19382
hg18382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3446312
Supporting Variants
SamplesNA19240
Known GenesANKLE2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651851
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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