A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11634703



Internal ID2433601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140574364..140582304hg38UCSC Ensembl
Innerchr4:140574364..140582304hg38UCSC Ensembl
Outerchr4:140574230..140582485hg38UCSC Ensembl
chr4:141495518..141503458hg19UCSC Ensembl
Innerchr4:141495518..141503458hg19UCSC Ensembl
Outerchr4:141495384..141503639hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg387941
hg197941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602453
Supporting Variants
SamplesHG02146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11634703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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