A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370934



Internal ID3182792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25220411..25221458hg38UCSC Ensembl
Innerchr4:25220461..25221408hg38UCSC Ensembl
Outerchr4:25220361..25221508hg38UCSC Ensembl
chr4:25222033..25223080hg19UCSC Ensembl
Innerchr4:25222083..25223030hg19UCSC Ensembl
Outerchr4:25221983..25223130hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599961
Supporting Variants
SamplesHG02798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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