A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610854



Internal ID6997771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133405194..133428925hg38UCSC Ensembl
Innerchr6:133405232..133428888hg38UCSC Ensembl
Outerchr6:133405157..133428963hg38UCSC Ensembl
chr6:133726332..133750063hg19UCSC Ensembl
Innerchr6:133726370..133750026hg19UCSC Ensembl
Outerchr6:133726295..133750101hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3823732
hg1923732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12556496
SamplesNA12340
Known GenesEYA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610854
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