A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11706142



Internal ID4507663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173140942..173145440hg38UCSC Ensembl
Innerchr4:173140961..173145422hg38UCSC Ensembl
Outerchr4:173140924..173145459hg38UCSC Ensembl
chr4:174062093..174066591hg19UCSC Ensembl
Innerchr4:174062112..174066573hg19UCSC Ensembl
Outerchr4:174062075..174066610hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603208
Supporting Variants
SamplesHG04006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11706142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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