A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11509763



Internal ID1511579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78095876..78106026hg38UCSC Ensembl
Innerchr4:78095876..78106026hg38UCSC Ensembl
Outerchr4:78095742..78106155hg38UCSC Ensembl
chr4:79017030..79027180hg19UCSC Ensembl
Innerchr4:79017030..79027180hg19UCSC Ensembl
Outerchr4:79016896..79027309hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3810151
hg1910151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601089
Supporting Variants
SamplesHG02389
Known GenesFRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11509763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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