A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992183



Internal ID3993999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1002638..1016158hg38UCSC Ensembl
chr11:1002638..1016158hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3813521
hg1913521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625094
Supporting Variants
SamplesNA12272
Known GenesAP2A2, MUC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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