A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11741732



Internal ID5147892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186081238..186082230hg38UCSC Ensembl
Innerchr4:186081238..186082230hg38UCSC Ensembl
Outerchr4:186080973..186082445hg38UCSC Ensembl
chr4:187002392..187003384hg19UCSC Ensembl
Innerchr4:187002392..187003384hg19UCSC Ensembl
Outerchr4:187002127..187003599hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603520
Supporting Variants
SamplesNA18577
Known GenesTLR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11741732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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