A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338333



Internal ID4340149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3166596..3174162hg38UCSC Ensembl
Innerchr12:3167096..3173662hg38UCSC Ensembl
Outerchr12:3165596..3175162hg38UCSC Ensembl
chr12:3275762..3283328hg19UCSC Ensembl
Innerchr12:3276262..3282828hg19UCSC Ensembl
Outerchr12:3274762..3284328hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387567
hg197567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628340
Supporting Variants
SamplesHG03717
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338333
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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