A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604133



Internal ID6991163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16535614..16536622hg38UCSC Ensembl
Innerchr5:16535614..16536622hg38UCSC Ensembl
Outerchr5:16535542..16536681hg38UCSC Ensembl
chr5:16535723..16536731hg19UCSC Ensembl
Innerchr5:16535723..16536731hg19UCSC Ensembl
Outerchr5:16535651..16536790hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11820091, essv11820093, essv11820092
SamplesNA12287, NA12003, NA19741
Known GenesFAM134B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604133
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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