A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992176



Internal ID3993992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:966063..1001637hg38UCSC Ensembl
chr11:966063..1001637hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3835575
hg1935575
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625092
Supporting Variants
SamplesHG00251
Known GenesAP2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992176
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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