A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11718042



Internal ID3642793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176618047..176669271hg38UCSC Ensembl
Innerchr4:176618061..176669258hg38UCSC Ensembl
Outerchr4:176618034..176669285hg38UCSC Ensembl
chr4:177539198..177590422hg19UCSC Ensembl
Innerchr4:177539212..177590409hg19UCSC Ensembl
Outerchr4:177539185..177590436hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3851225
hg1951225
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603281
Supporting Variants
SamplesHG03238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11718042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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