A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11421473



Internal ID4079459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:45758504..45760444hg38UCSC Ensembl
Innerchr4:45758506..45760443hg38UCSC Ensembl
Outerchr4:45758503..45760446hg38UCSC Ensembl
chr4:45760521..45762461hg19UCSC Ensembl
Innerchr4:45760523..45762460hg19UCSC Ensembl
Outerchr4:45760520..45762463hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381941
hg191941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600417
Supporting Variants
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11421473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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