A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14888856



Internal ID6904106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105457162..105460959hg38UCSC Ensembl
Innerchr13:105457186..105460935hg38UCSC Ensembl
Outerchr13:105457138..105460983hg38UCSC Ensembl
chr13:106109511..106113308hg19UCSC Ensembl
Innerchr13:106109535..106113284hg19UCSC Ensembl
Outerchr13:106109487..106113332hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg383798
hg193798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633445
Supporting Variants
SamplesNA21111
Known GenesDAOA-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14888856
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