A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14465517



Internal ID6816434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43999718..44008571hg38UCSC Ensembl
Innerchr12:43999720..44008569hg38UCSC Ensembl
Outerchr12:43999716..44008573hg38UCSC Ensembl
chr12:44393521..44402374hg19UCSC Ensembl
Innerchr12:44393523..44402372hg19UCSC Ensembl
Outerchr12:44393519..44402376hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388854
hg198854
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629359
Supporting Variants
SamplesNA20897
Known GenesTMEM117
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14465517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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