A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107083



Internal ID5108899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99583331..99589930hg38UCSC Ensembl
chr14:100049668..100056267hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635484
Supporting Variants
SamplesHG00610
Known GenesCCDC85C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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