A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11732416



Internal ID2544555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183488834..183490258hg38UCSC Ensembl
Innerchr4:183488895..183490197hg38UCSC Ensembl
Outerchr4:183488773..183490319hg38UCSC Ensembl
chr4:184409987..184411411hg19UCSC Ensembl
Innerchr4:184410048..184411350hg19UCSC Ensembl
Outerchr4:184409926..184411472hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603439
Supporting Variants
SamplesHG02259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11732416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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