A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617231



Internal ID7004117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53042580..53077165hg38UCSC Ensembl
Innerchr8:53042580..53077165hg38UCSC Ensembl
Outerchr8:53042080..53077665hg38UCSC Ensembl
chr8:53955140..53989725hg19UCSC Ensembl
Innerchr8:53955140..53989725hg19UCSC Ensembl
Outerchr8:53954640..53990225hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3834586
hg1934586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13201974, essv13201970, essv13201969, essv13201977, essv13201979, essv13201982, essv13201971, essv13201978, essv13201976, essv13201973, essv13201981, essv13201975, essv13201980, essv13201972
SamplesNA19204, NA18881, HG03100, NA18504, HG03372, HG01350, HG02420, HG02442, HG02977, NA19099, HG02594, HG01896, HG03437, HG02107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617231
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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