A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14869328



Internal ID4871144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96433333..96434521hg38UCSC Ensembl
Innerchr13:96433382..96434472hg38UCSC Ensembl
Outerchr13:96433284..96434570hg38UCSC Ensembl
chr13:97085587..97086775hg19UCSC Ensembl
Innerchr13:97085636..97086726hg19UCSC Ensembl
Outerchr13:97085538..97086824hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633273
Supporting Variants
SamplesNA19064
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14869328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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