A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12180893



Internal ID2182709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6005122..6044365hg38UCSC Ensembl
chr6:6005355..6044598hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3839244
hg1939244
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607988
Supporting Variants
SamplesNA20294
Known GenesNRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12180893
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