A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11366011



Internal ID1264138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20104877..20112548hg38UCSC Ensembl
Innerchr4:20104877..20112548hg38UCSC Ensembl
Outerchr4:20104377..20113048hg38UCSC Ensembl
chr4:20106500..20114171hg19UCSC Ensembl
Innerchr4:20106500..20114171hg19UCSC Ensembl
Outerchr4:20106000..20114671hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg387672
hg197672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599835
Supporting Variants
SamplesHG01111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11366011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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