A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782659



Internal ID4339488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68260201..68262238hg38UCSC Ensembl
Innerchr13:68260251..68262188hg38UCSC Ensembl
Outerchr13:68260143..68262296hg38UCSC Ensembl
chr13:68834333..68836370hg19UCSC Ensembl
Innerchr13:68834383..68836320hg19UCSC Ensembl
Outerchr13:68834275..68836428hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382038
hg192038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632586
Supporting Variants
SamplesHG03882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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