A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14697730



Internal ID1095279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37983629..37987411hg38UCSC Ensembl
Innerchr13:37983656..37987385hg38UCSC Ensembl
Outerchr13:37983603..37987438hg38UCSC Ensembl
chr13:38557766..38561548hg19UCSC Ensembl
Innerchr13:38557793..38561522hg19UCSC Ensembl
Outerchr13:38557740..38561575hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383783
hg193783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631814
Supporting Variants
SamplesHG00729
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14697730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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