A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616940



Internal ID7003826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39197060..39249176hg38UCSC Ensembl
chr8:39054579..39106695hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3852117
hg1952117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13170741
SamplesHG00533
Known GenesADAM32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616940
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