A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11376080



Internal ID5706889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27691486..27702166hg38UCSC Ensembl
Innerchr4:27691508..27702144hg38UCSC Ensembl
Outerchr4:27691464..27702188hg38UCSC Ensembl
chr4:27693108..27703788hg19UCSC Ensembl
Innerchr4:27693130..27703766hg19UCSC Ensembl
Outerchr4:27693086..27703810hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810681
hg1910681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600003
Supporting Variants
SamplesNA19091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11376080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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