A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14787172



Internal ID1686597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70207890..70242400hg38UCSC Ensembl
Innerchr13:70208390..70241900hg38UCSC Ensembl
Outerchr13:70206890..70243400hg38UCSC Ensembl
chr13:70782022..70816532hg19UCSC Ensembl
Innerchr13:70782522..70816032hg19UCSC Ensembl
Outerchr13:70781022..70817532hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3834511
hg1934511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632639
Supporting Variants
SamplesHG01565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14787172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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