A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677977



Internal ID9597396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121480607..121481951hg38UCSC Ensembl
chr11:121351316..121352660hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6182524, essv6095780, essv6208664, essv6489261, essv6379858, essv6083001, essv6048788, essv5711983, essv5771953, essv6456577
SamplesNA19332, NA19359, NA19384, NA19917, NA18858, NA19375, NA19439, NA19376, NA18501, NA20348
Known GenesSORL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677977
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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