A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11514372



Internal ID1516188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78558856..78560171hg38UCSC Ensembl
Innerchr4:78558858..78560170hg38UCSC Ensembl
Outerchr4:78558855..78560173hg38UCSC Ensembl
chr4:79480010..79481325hg19UCSC Ensembl
Innerchr4:79480012..79481324hg19UCSC Ensembl
Outerchr4:79480009..79481327hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601108
Supporting Variants
SamplesHG02314
Known GenesANXA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11514372
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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