A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14400078



Internal ID4546283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17948961..17957619hg38UCSC Ensembl
Innerchr12:17948964..17957616hg38UCSC Ensembl
Outerchr12:17948958..17957622hg38UCSC Ensembl
chr12:18101895..18110553hg19UCSC Ensembl
Innerchr12:18101898..18110550hg19UCSC Ensembl
Outerchr12:18101892..18110556hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg388659
hg198659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628721
Supporting Variants
SamplesHG04042
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14400078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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