A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618199



Internal ID7005082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100967154..100985836hg38UCSC Ensembl
Innerchr8:100967654..100985336hg38UCSC Ensembl
Outerchr8:100966154..100986836hg38UCSC Ensembl
chr8:101979382..101998064hg19UCSC Ensembl
Innerchr8:101979882..101997564hg19UCSC Ensembl
Outerchr8:101978382..101999064hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3818683
hg1918683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13269340, essv13269349, essv13269342, essv13269345, essv13269347, essv13269343, essv13269348, essv13269344, essv13269350, essv13269341, essv13269346
SamplesNA19700, HG03121, NA20332, NA18510, NA19107, NA19374, NA19189, NA19391, NA19461, HG02586, HG03351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618199
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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