A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11857149



Internal ID1858965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32625459..32725468hg38UCSC Ensembl
chr5:32625565..32725574hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38100010
hg19100010
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604616
Supporting Variants
SamplesNA12717
Known GenesNPR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11857149
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