A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992179



Internal ID3993995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:968453..969451hg38UCSC Ensembl
Innerchr11:968461..969443hg38UCSC Ensembl
Outerchr11:968445..969459hg38UCSC Ensembl
chr11:968453..969451hg19UCSC Ensembl
Innerchr11:968461..969443hg19UCSC Ensembl
Outerchr11:968445..969459hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625093
Supporting Variants
SamplesNA18993
Known GenesAP2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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