A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13946409



Internal ID3948225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116669693..116679763hg38UCSC Ensembl
chr10:118429204..118439274hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3810071
hg1910071
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624662
Supporting Variants
SamplesHG01412
Known GenesC10orf82, HSPA12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13946409
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