A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702942



Internal ID5524414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39484146..39494551hg38UCSC Ensembl
Innerchr13:39484296..39494401hg38UCSC Ensembl
Outerchr13:39483996..39494701hg38UCSC Ensembl
chr13:40058283..40068688hg19UCSC Ensembl
Innerchr13:40058433..40068538hg19UCSC Ensembl
Outerchr13:40058133..40068838hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3810406
hg1910406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631833
Supporting Variants
SamplesNA18994
Known GenesLHFP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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