A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14686151



Internal ID2671230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32875624..32882382hg38UCSC Ensembl
Innerchr13:32875624..32882382hg38UCSC Ensembl
Outerchr13:32875124..32882882hg38UCSC Ensembl
chr13:33449762..33456520hg19UCSC Ensembl
Innerchr13:33449762..33456520hg19UCSC Ensembl
Outerchr13:33449262..33457020hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg386759
hg196759
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631732
Supporting Variants
SamplesHG02367
Known GenesLINC00423
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14686151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer