A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11643530



Internal ID4349135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146192510..146194953hg38UCSC Ensembl
Innerchr4:146192560..146194903hg38UCSC Ensembl
Outerchr4:146192460..146195003hg38UCSC Ensembl
chr4:147113662..147116105hg19UCSC Ensembl
Innerchr4:147113712..147116055hg19UCSC Ensembl
Outerchr4:147113612..147116155hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602573
Supporting Variants
SamplesHG03887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11643530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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