A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848213



Internal ID3223203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90874335..90936410hg38UCSC Ensembl
chr13:91526589..91588664hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3862076
hg1962076
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633138
Supporting Variants
SamplesHG02836
Known GenesLINC00410
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848213
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