A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528441



Internal ID1530257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88864943..88868632hg38UCSC Ensembl
Innerchr4:88864943..88868632hg38UCSC Ensembl
Outerchr4:88864776..88868781hg38UCSC Ensembl
chr4:89786094..89789783hg19UCSC Ensembl
Innerchr4:89786094..89789783hg19UCSC Ensembl
Outerchr4:89785927..89789932hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383690
hg193690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601309
Supporting Variants
SamplesNA19664
Known GenesFAM13A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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