A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656822



Internal ID9576241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91103277..91173399hg38UCSC Ensembl
chr8:92115505..92185627hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3870123
hg1970123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6534817, essv5489300, essv6079319, essv6196919, essv5719201, essv6330107, essv5820751, essv6107929, essv6549564, essv5488885, essv5772492
SamplesHG00313, HG00475, HG00190, HG00334, HG00280, HG00266, HG00179, NA19722, HG00584, NA19063, HG00361
Known GenesLRRC69
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656822
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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