A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621785



Internal ID7008651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127469764..127471615hg38UCSC Ensembl
Innerchr9:127469806..127471573hg38UCSC Ensembl
Outerchr9:127469722..127471657hg38UCSC Ensembl
chr9:130232043..130233894hg19UCSC Ensembl
Innerchr9:130232085..130233852hg19UCSC Ensembl
Outerchr9:130232001..130233936hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381852
hg191852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13622615, essv13622618, essv13622616, essv13622608, essv13622603, essv13622611, essv13622614, essv13622607, essv13622610, essv13622617, essv13622605, essv13622613, essv13622609, essv13622602, essv13622612, essv13622606, essv13622604
SamplesHG02481, NA12286, HG02262, NA20531, HG01779, NA19764, HG01242, HG02252, HG02003, NA20753, HG00137, HG00101, HG00320, NA18907, HG00155, HG00378, HG00252
Known GenesLRSAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621785
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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