A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678919



Internal ID9598338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167843225..167847726hg38UCSC Ensembl
chr6:168243905..168248406hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5815137, essv5959274
SamplesHG01455, HG01137
Known GenesMLLT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678919
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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