A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11397833



Internal ID1399649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38809373..38862827hg38UCSC Ensembl
Innerchr4:38809523..38862677hg38UCSC Ensembl
Outerchr4:38809223..38862977hg38UCSC Ensembl
chr4:38810994..38864448hg19UCSC Ensembl
Innerchr4:38811144..38864298hg19UCSC Ensembl
Outerchr4:38810844..38864598hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3853455
hg1953455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600267
Supporting Variants
SamplesNA19473
Known GenesTLR6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11397833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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