A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11745469



Internal ID4265579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186210472..186225457hg38UCSC Ensembl
Innerchr4:186210472..186225457hg38UCSC Ensembl
Outerchr4:186209972..186225957hg38UCSC Ensembl
chr4:187131626..187146611hg19UCSC Ensembl
Innerchr4:187131626..187146611hg19UCSC Ensembl
Outerchr4:187131126..187147111hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3814986
hg1914986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603525
Supporting Variants
SamplesHG03832
Known GenesCYP4V2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11745469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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