A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618783



Internal ID7005665
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13322954, essv13322953, essv13322952
SamplesHG03960, HG03636, HG03778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618783
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer