A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14120108



Internal ID4121924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47220929..47225361hg38UCSC Ensembl
Innerchr11:47220992..47225298hg38UCSC Ensembl
Outerchr11:47220866..47225424hg38UCSC Ensembl
chr11:47242480..47246912hg19UCSC Ensembl
Innerchr11:47242543..47246849hg19UCSC Ensembl
Outerchr11:47242417..47246975hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg384433
hg194433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626199
Supporting Variants
SamplesHG03862
Known GenesDDB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14120108
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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