A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657586



Internal ID9923691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24636823..24642803hg38UCSC Ensembl
chr11:24658369..24664349hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg385981
hg195981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5618052, essv5720200, essv6103926, essv5690264, essv5737470, essv5630277, essv6516346, essv6510529, essv6413210, essv6504703, essv6208161
SamplesHG01389, NA18908, NA19114, NA18853, NA19395, NA18517, NA19467, NA19474, NA18873, NA19213, NA18505
Known GenesLUZP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657586
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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