A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13102327



Internal ID1984655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11344823..11363362hg38UCSC Ensembl
Innerchr8:11345323..11362862hg38UCSC Ensembl
Outerchr8:11343823..11364362hg38UCSC Ensembl
chr8:11202332..11220871hg19UCSC Ensembl
Innerchr8:11202832..11220371hg19UCSC Ensembl
Outerchr8:11201332..11221871hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818540
hg1918540
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616244
Supporting Variants
SamplesHG01845
Known GenesTDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13102327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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