A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14045251



Internal ID4380441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18970206..18976996hg38UCSC Ensembl
Innerchr11:18970220..18976983hg38UCSC Ensembl
Outerchr11:18970193..18977010hg38UCSC Ensembl
chr11:18991753..18998543hg19UCSC Ensembl
Innerchr11:18991767..18998530hg19UCSC Ensembl
Outerchr11:18991740..18998557hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg386791
hg196791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625523
Supporting Variants
SamplesHG03907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14045251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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