A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13104157



Internal ID6318623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11784657..11787808hg38UCSC Ensembl
Innerchr8:11784681..11787785hg38UCSC Ensembl
Outerchr8:11784634..11787832hg38UCSC Ensembl
chr8:11642166..11645317hg19UCSC Ensembl
Innerchr8:11642190..11645294hg19UCSC Ensembl
Outerchr8:11642143..11645341hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383152
hg193152
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616258
Supporting Variants
SamplesNA19917
Known GenesNEIL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13104157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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