A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625093



Internal ID6665245
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13992180, essv13992178, essv13992179
SamplesNA19089, NA18993, NA18980
Known GenesAP2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625093
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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