A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992186



Internal ID3994002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1010817..1014448hg38UCSC Ensembl
Innerchr11:1010870..1014395hg38UCSC Ensembl
Outerchr11:1010764..1014501hg38UCSC Ensembl
chr11:1010817..1014448hg19UCSC Ensembl
Innerchr11:1010870..1014395hg19UCSC Ensembl
Outerchr11:1010764..1014501hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383632
hg193632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625096
Supporting Variants
SamplesHG00449
Known GenesAP2A2, MUC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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