A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622008



Internal ID7008870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136429712..136457993hg38UCSC Ensembl
chr9:139324164..139352445hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3828282
hg1928282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13655173, essv13655172
SamplesNA20521, NA20502
Known GenesINPP5E, SEC16A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622008
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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