A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670981



Internal ID9590400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59670969..59672464hg38UCSC Ensembl
Outerchr12:59670932..59672514hg38UCSC Ensembl
Innerchr12:60064750..60066245hg19UCSC Ensembl
Outerchr12:60064713..60066295hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381583
hg191583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519499
SamplesNA19916
Known GenesSLC16A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670981
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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