A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14231032



Internal ID4232848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90227976..90280985hg38UCSC Ensembl
Innerchr11:90228033..90280929hg38UCSC Ensembl
Outerchr11:90227920..90281042hg38UCSC Ensembl
chr11:89961144..90014153hg19UCSC Ensembl
Innerchr11:89961201..90014097hg19UCSC Ensembl
Outerchr11:89961088..90014210hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3853010
hg1953010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627193
Supporting Variants
SamplesHG00146
Known GenesDISC1FP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14231032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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