A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429708



Internal ID6542038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48941775..48951624hg38UCSC Ensembl
Innerchr4:48941782..48951618hg38UCSC Ensembl
Outerchr4:48941769..48951631hg38UCSC Ensembl
chr4:48943792..48953641hg19UCSC Ensembl
Innerchr4:48943799..48953635hg19UCSC Ensembl
Outerchr4:48943786..48953648hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg389850
hg199850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600472
Supporting Variants
SamplesNA20587
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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