A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822526



Internal ID1783934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:84480997..84490702hg38UCSC Ensembl
Innerchr13:84481056..84490644hg38UCSC Ensembl
Outerchr13:84480939..84490761hg38UCSC Ensembl
chr13:85055132..85064837hg19UCSC Ensembl
Innerchr13:85055191..85064779hg19UCSC Ensembl
Outerchr13:85055074..85064896hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg389706
hg199706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632950
Supporting Variants
SamplesHG01669
Known GenesLINC00333
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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