A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992627



Internal ID3994443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1250853..1278327hg38UCSC Ensembl
chr11:1272083..1299557hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3827475
hg1927475
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625107
Supporting Variants
SamplesHG03928
Known GenesMIR6744, MUC5B, TOLLIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992627
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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