A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450477



Internal ID4452293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39667551..39701177hg38UCSC Ensembl
Innerchr12:39667551..39701177hg38UCSC Ensembl
Outerchr12:39667051..39701677hg38UCSC Ensembl
chr12:40061353..40094979hg19UCSC Ensembl
Innerchr12:40061353..40094979hg19UCSC Ensembl
Outerchr12:40060853..40095479hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3833627
hg1933627
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629269
Supporting Variants
SamplesHG03826
Known GenesC12orf40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450477
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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