A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822383



Internal ID4978599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83913923..83957236hg38UCSC Ensembl
Innerchr13:83913923..83957236hg38UCSC Ensembl
Outerchr13:83913423..83957736hg38UCSC Ensembl
chr13:84488058..84531371hg19UCSC Ensembl
Innerchr13:84488058..84531371hg19UCSC Ensembl
Outerchr13:84487558..84531871hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3843314
hg1943314
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632931
Supporting Variants
SamplesNA12889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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