A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6332500



Internal ID9296287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121672538..121680218hg38UCSC Ensembl
Outerchr12:121672381..121680371hg38UCSC Ensembl
Innerchr12:122110444..122118124hg19UCSC Ensembl
Outerchr12:122110287..122118277hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387991
hg197991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657133
Supporting Variants
SamplesNA12843
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6332500
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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