A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11505877



Internal ID3670959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75821760..75825008hg38UCSC Ensembl
Innerchr4:75821760..75825008hg38UCSC Ensembl
Outerchr4:75821260..75825508hg38UCSC Ensembl
chr4:76742913..76746161hg19UCSC Ensembl
Innerchr4:76742913..76746161hg19UCSC Ensembl
Outerchr4:76742413..76746661hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg383249
hg193249
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601036
Supporting Variants
SamplesHG03270
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11505877
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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