A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11444823



Internal ID6514373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58055433..58068261hg38UCSC Ensembl
Innerchr4:58055483..58068211hg38UCSC Ensembl
Outerchr4:58055355..58068339hg38UCSC Ensembl
chr4:58921599..58934427hg19UCSC Ensembl
Innerchr4:58921649..58934377hg19UCSC Ensembl
Outerchr4:58921521..58934505hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812829
hg1912829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600619
Supporting Variants
SamplesNA20539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11444823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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