A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14787136



Internal ID5986017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70071900..70080635hg38UCSC Ensembl
Innerchr13:70071923..70080612hg38UCSC Ensembl
Outerchr13:70071877..70080658hg38UCSC Ensembl
chr13:70646032..70654767hg19UCSC Ensembl
Innerchr13:70646055..70654744hg19UCSC Ensembl
Outerchr13:70646009..70654790hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg388736
hg198736
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632635
Supporting Variants
SamplesNA19391
Known GenesKLHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14787136
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