A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12080885



Internal ID2082701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142429586..142587295hg38UCSC Ensembl
chr5:141809151..141966860hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38157710
hg19157710
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607000
Supporting Variants
SamplesHG03837
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12080885
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