A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598379



Internal ID6985515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160177597..160182076hg38UCSC Ensembl
Innerchr3:160177597..160182076hg38UCSC Ensembl
Outerchr3:160177361..160182287hg38UCSC Ensembl
chr3:159895384..159899863hg19UCSC Ensembl
Innerchr3:159895384..159899863hg19UCSC Ensembl
Outerchr3:159895148..159900074hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384480
hg194480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv948e214
Supporting Variantsessv11199627, essv11199634, essv11199635, essv11199630, essv11199629, essv11199628, essv11199633, essv11199632, essv11199631
SamplesHG02471, NA19347, NA19327, NA19452, NA19436, HG02759, HG03469, NA19376, HG03166
Known GenesIL12A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598379
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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