A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600913



Internal ID6987952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69523176..69524514hg38UCSC Ensembl
Innerchr4:69523180..69524511hg38UCSC Ensembl
Outerchr4:69523173..69524518hg38UCSC Ensembl
chr4:70388894..70390232hg19UCSC Ensembl
Innerchr4:70388898..70390229hg19UCSC Ensembl
Outerchr4:70388891..70390236hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11490159, essv11490156, essv11490155, essv11490154, essv11490158, essv11490162, essv11490151, essv11490148, essv11490153, essv11490157, essv11490152, essv11490150, essv11490163, essv11490160, essv11490149, essv11490161
SamplesHG02386, NA18530, HG02154, NA19068, HG00589, HG00674, HG00867, NA18560, NA19007, NA19070, NA19064, NA18536, NA18978, HG01846, HG02028, HG00759
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600913
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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