A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633311



Internal ID6673433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98476231..98478227hg38UCSC Ensembl
Innerchr13:98476231..98478227hg38UCSC Ensembl
Outerchr13:98476028..98478251hg38UCSC Ensembl
chr13:99128485..99130481hg19UCSC Ensembl
Innerchr13:99128485..99130481hg19UCSC Ensembl
Outerchr13:99128282..99130505hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14870680, essv14870683, essv14870679, essv14870678, essv14870682, essv14870684, essv14870681
SamplesNA21125, NA21114, NA21133, NA20853, HG03871, HG03757, HG03745
Known GenesSTK24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633311
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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