A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11614041



Internal ID1926332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133815235..133817074hg38UCSC Ensembl
Innerchr4:133815267..133817042hg38UCSC Ensembl
Outerchr4:133815203..133817106hg38UCSC Ensembl
chr4:134736390..134738229hg19UCSC Ensembl
Innerchr4:134736422..134738197hg19UCSC Ensembl
Outerchr4:134736358..134738261hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381840
hg191840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602295
Supporting Variants
SamplesHG01798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11614041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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