A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14695147



Internal ID4696963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37474283..37475174hg38UCSC Ensembl
Innerchr13:37474283..37475174hg38UCSC Ensembl
Outerchr13:37473896..37475577hg38UCSC Ensembl
chr13:38048420..38049311hg19UCSC Ensembl
Innerchr13:38048420..38049311hg19UCSC Ensembl
Outerchr13:38048033..38049714hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631798
Supporting Variants
SamplesHG04002
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14695147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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