A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15243871



Internal ID432071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48348091..48356043hg38UCSC Ensembl
Innerchr15:48348591..48355543hg38UCSC Ensembl
Outerchr15:48347091..48357043hg38UCSC Ensembl
chr15:48640288..48648240hg19UCSC Ensembl
Innerchr15:48640788..48647740hg19UCSC Ensembl
Outerchr15:48639288..48649240hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg387953
hg197953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636414
Supporting Variants
SamplesHG00132
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15243871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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