A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992380



Internal ID5591206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1157818..1163296hg38UCSC Ensembl
chr11:1151445..1156913hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385479
hg195469
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625102
Supporting Variants
SamplesNA19028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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