A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14449385



Internal ID2629628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38769144..38775174hg38UCSC Ensembl
Innerchr12:38769144..38775174hg38UCSC Ensembl
Outerchr12:38768644..38775674hg38UCSC Ensembl
chr12:39162946..39168976hg19UCSC Ensembl
Innerchr12:39162946..39168976hg19UCSC Ensembl
Outerchr12:39162446..39169476hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386031
hg196031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629244
Supporting Variants
SamplesHG02325
Known GenesCPNE8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14449385
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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