A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599550



Internal ID6986596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8765163..8768890hg38UCSC Ensembl
Innerchr4:8765174..8768879hg38UCSC Ensembl
Outerchr4:8765152..8768901hg38UCSC Ensembl
chr4:8766889..8770616hg19UCSC Ensembl
Innerchr4:8766900..8770605hg19UCSC Ensembl
Outerchr4:8766878..8770627hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383728
hg193728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337985, essv11337986
SamplesNA20851, NA21104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599550
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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