A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14195780



Internal ID1974539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66571567..66573559hg38UCSC Ensembl
Innerchr11:66571617..66573509hg38UCSC Ensembl
Outerchr11:66571517..66573609hg38UCSC Ensembl
chr11:66339038..66341030hg19UCSC Ensembl
Innerchr11:66339088..66340980hg19UCSC Ensembl
Outerchr11:66338988..66341080hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626697
Supporting Variants
SamplesHG01841
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14195780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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