A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633271



Internal ID6673393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96398348..96399387hg38UCSC Ensembl
Innerchr13:96398351..96399384hg38UCSC Ensembl
Outerchr13:96398345..96399390hg38UCSC Ensembl
chr13:97050602..97051641hg19UCSC Ensembl
Innerchr13:97050605..97051638hg19UCSC Ensembl
Outerchr13:97050599..97051644hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14869325, essv14869324, essv14869323, essv14869326
SamplesHG01878, NA19834, HG04098, HG03950
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633271
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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