A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675015



Internal ID9594434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55823898..55825663hg38UCSC Ensembl
Outerchr12:55823861..55825713hg38UCSC Ensembl
Innerchr12:56217682..56219447hg19UCSC Ensembl
Outerchr12:56217645..56219497hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6001392
SamplesHG00566
Known GenesDNAJC14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675015
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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