A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11614576



Internal ID6592312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:134007930..134076602hg38UCSC Ensembl
Innerchr4:134007930..134076602hg38UCSC Ensembl
Outerchr4:134007430..134077102hg38UCSC Ensembl
chr4:134929085..134997757hg19UCSC Ensembl
Innerchr4:134929085..134997757hg19UCSC Ensembl
Outerchr4:134928585..134998257hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3868673
hg1968673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602301
Supporting Variants
SamplesNA20768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11614576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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