A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11410740



Internal ID2654502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42166692..42174036hg38UCSC Ensembl
Innerchr4:42166757..42173971hg38UCSC Ensembl
Outerchr4:42166627..42174101hg38UCSC Ensembl
chr4:42168709..42176053hg19UCSC Ensembl
Innerchr4:42168774..42175988hg19UCSC Ensembl
Outerchr4:42168644..42176118hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg387345
hg197345
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600348
Supporting Variants
SamplesHG02348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11410740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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