A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11561748



Internal ID4995191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110375224..110380438hg38UCSC Ensembl
Innerchr4:110375224..110380438hg38UCSC Ensembl
Outerchr4:110375005..110380664hg38UCSC Ensembl
chr4:111296380..111301594hg19UCSC Ensembl
Innerchr4:111296380..111301594hg19UCSC Ensembl
Outerchr4:111296161..111301820hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385215
hg195215
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601761
Supporting Variants
SamplesNA18499
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11561748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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