A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674004



Internal ID9940109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113323951..113330244hg38UCSC Ensembl
chr6:113645153..113651446hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386294
hg196294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5978117
SamplesHG01134
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674004
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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