A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322347



Internal ID1583794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127704205..127717656hg38UCSC Ensembl
Innerchr8:127704207..127717654hg38UCSC Ensembl
Outerchr8:127704203..127717658hg38UCSC Ensembl
chr8:128716450..128729902hg19UCSC Ensembl
Innerchr8:128716452..128729900hg19UCSC Ensembl
Outerchr8:128716448..128729904hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3813452
hg1913453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618779
Supporting Variants
SamplesHG01464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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