A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14689802



Internal ID368821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36055695..36067005hg38UCSC Ensembl
Innerchr13:36055695..36067005hg38UCSC Ensembl
Outerchr13:36055195..36067505hg38UCSC Ensembl
chr13:36629832..36641142hg19UCSC Ensembl
Innerchr13:36629832..36641142hg19UCSC Ensembl
Outerchr13:36629332..36641642hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3811311
hg1911311
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631773
Supporting Variants
SamplesHG00106
Known GenesDCLK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14689802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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