A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710320



Internal ID6949275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44254436..44261718hg38UCSC Ensembl
Innerchr13:44254442..44261713hg38UCSC Ensembl
Outerchr13:44254431..44261724hg38UCSC Ensembl
chr13:44828572..44835854hg19UCSC Ensembl
Innerchr13:44828578..44835849hg19UCSC Ensembl
Outerchr13:44828567..44835860hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg387283
hg197283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631933
Supporting Variants
SamplesNA21129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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