A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13367748



Internal ID1993644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143742220..143745874hg38UCSC Ensembl
Innerchr8:143742240..143745854hg38UCSC Ensembl
Outerchr8:143742200..143745894hg38UCSC Ensembl
chr8:144824390..144828044hg19UCSC Ensembl
Innerchr8:144824410..144828024hg19UCSC Ensembl
Outerchr8:144824370..144828064hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383655
hg193655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619116
Supporting Variants
SamplesHG01848
Known GenesFAM83H-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13367748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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