A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599546



Internal ID6639810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8466654..8480403hg38UCSC Ensembl
Innerchr4:8466654..8480403hg38UCSC Ensembl
Outerchr4:8466154..8480903hg38UCSC Ensembl
chr4:8468381..8482130hg19UCSC Ensembl
Innerchr4:8468381..8482130hg19UCSC Ensembl
Outerchr4:8467881..8482630hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3813750
hg1913750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337981, essv11337978, essv11337979, essv11337980, essv11337977
SamplesHG00182, HG00306, HG00373, NA12272, HG00272
Known GenesTRMT44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599546
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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