A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618683



Internal ID7005565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124136432..124138277hg38UCSC Ensembl
Innerchr8:124136438..124138272hg38UCSC Ensembl
Outerchr8:124136427..124138283hg38UCSC Ensembl
chr8:125148673..125150518hg19UCSC Ensembl
Innerchr8:125148679..125150513hg19UCSC Ensembl
Outerchr8:125148668..125150524hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381846
hg191846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13310752, essv13310751, essv13310753
SamplesHG00368, NA12234, HG00372
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618683
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