A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13285665



Internal ID1616020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:110028730..110035624hg38UCSC Ensembl
Innerchr8:110028730..110035624hg38UCSC Ensembl
Outerchr8:110028230..110036124hg38UCSC Ensembl
chr8:111040959..111047853hg19UCSC Ensembl
Innerchr8:111040959..111047853hg19UCSC Ensembl
Outerchr8:111040459..111048353hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618385
Supporting Variants
SamplesHG01497
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13285665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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