A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848201



Internal ID6070473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90654668..90667879hg38UCSC Ensembl
Innerchr13:90654668..90667879hg38UCSC Ensembl
Outerchr13:90654168..90668379hg38UCSC Ensembl
chr13:91306922..91320133hg19UCSC Ensembl
Innerchr13:91306922..91320133hg19UCSC Ensembl
Outerchr13:91306422..91320633hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3813212
hg1913212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633132
Supporting Variants
SamplesNA19457
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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