A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669272



Internal ID9935377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126862361..126866945hg38UCSC Ensembl
chr6:127183506..127188090hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384585
hg194585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6036810, essv5986721, essv5478703, essv5957913
SamplesHG00114, HG00185, HG00325, HG00637
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669272
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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