A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11379159



Internal ID5430788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28638732..28735606hg38UCSC Ensembl
Innerchr4:28638734..28735604hg38UCSC Ensembl
Outerchr4:28638730..28735608hg38UCSC Ensembl
chr4:28640354..28737228hg19UCSC Ensembl
Innerchr4:28640356..28737226hg19UCSC Ensembl
Outerchr4:28640352..28737230hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3896875
hg1996875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600022
Supporting Variants
SamplesNA18956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11379159
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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