A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11315986



Internal ID1814029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1860368..1860600hg38UCSC Ensembl
Innerchr4:1860367..1860601hg38UCSC Ensembl
Outerchr4:1860368..1860600hg38UCSC Ensembl
chr4:1862095..1862327hg19UCSC Ensembl
Innerchr4:1862328..1862094hg19UCSC Ensembl
Outerchr4:1862095..1862327hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599396
Supporting Variants
SamplesHG01685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11315986
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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