A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607816



Internal ID6648055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181134922..181164679hg38UCSC Ensembl
chr5:180561922..180591679hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3829758
hg1929758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12157258
SamplesHG01248
Known GenesOR2V2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607816
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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