A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688255



Internal ID6038712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:34781178..34783520hg38UCSC Ensembl
Innerchr13:34781178..34783520hg38UCSC Ensembl
Outerchr13:34780938..34783747hg38UCSC Ensembl
chr13:35355315..35357657hg19UCSC Ensembl
Innerchr13:35355315..35357657hg19UCSC Ensembl
Outerchr13:35355075..35357884hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg382343
hg192343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631755
Supporting Variants
SamplesNA19440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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