A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6335743



Internal ID8919049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6705704..6715543hg38UCSC Ensembl
Outerchr12:6705667..6715593hg38UCSC Ensembl
Innerchr12:6814870..6824709hg19UCSC Ensembl
Outerchr12:6814833..6824759hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389927
hg199927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662276
Supporting Variants
SamplesHG00421
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6335743
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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