A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14870682



Internal ID4872498
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633311
Supporting Variants
SamplesNA21114
Known GenesSTK24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14870682
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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