A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620449



Internal ID6660631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39089692..39125236hg38UCSC Ensembl
chr9:39089689..39125233hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3835545
hg1935545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13468660, essv13468658, essv13468659, essv13468657
SamplesHG04188, HG03779, HG03547, HG03237
Known GenesCNTNAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620449
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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