A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11363673



Internal ID1722928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18858479..18944621hg38UCSC Ensembl
Innerchr4:18858487..18944613hg38UCSC Ensembl
Outerchr4:18858471..18944629hg38UCSC Ensembl
chr4:18860102..18946244hg19UCSC Ensembl
Innerchr4:18860110..18946236hg19UCSC Ensembl
Outerchr4:18860094..18946252hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3886143
hg1986143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599802
Supporting Variants
SamplesHG01599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11363673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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