A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322954



Internal ID4452570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127826500..127838106hg38UCSC Ensembl
Innerchr8:127826500..127838106hg38UCSC Ensembl
Outerchr8:127826166..127838475hg38UCSC Ensembl
chr8:128838746..128850352hg19UCSC Ensembl
Innerchr8:128838746..128850352hg19UCSC Ensembl
Outerchr8:128838412..128850721hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3811607
hg1911607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618783
Supporting Variants
SamplesHG03960
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322954
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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