A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603718



Internal ID6282331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109119203..109121218hg38UCSC Ensembl
Innerchr12:109119203..109121218hg38UCSC Ensembl
Outerchr12:109119013..109121375hg38UCSC Ensembl
chr12:109557008..109559023hg19UCSC Ensembl
Innerchr12:109557008..109559023hg19UCSC Ensembl
Outerchr12:109556818..109559180hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382016
hg192016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630715
Supporting Variants
SamplesNA19818
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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