A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822400



Internal ID4978647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83990163..84098873hg38UCSC Ensembl
Innerchr13:83990215..84098822hg38UCSC Ensembl
Outerchr13:83990112..84098925hg38UCSC Ensembl
chr13:84564298..84673008hg19UCSC Ensembl
Innerchr13:84564350..84672957hg19UCSC Ensembl
Outerchr13:84564247..84673060hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38108711
hg19108711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632935
Supporting Variants
SamplesNA12889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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