A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404807



Internal ID5591540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40675085..40676127hg38UCSC Ensembl
Innerchr4:40675305..40676067hg38UCSC Ensembl
Outerchr4:40674839..40676373hg38UCSC Ensembl
chr4:40677102..40678144hg19UCSC Ensembl
Innerchr4:40677322..40678084hg19UCSC Ensembl
Outerchr4:40676856..40678390hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600316
Supporting Variants
SamplesNA19028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404807
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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