A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14343687



Internal ID4345503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4750081..4764205hg38UCSC Ensembl
Innerchr12:4750581..4763705hg38UCSC Ensembl
Outerchr12:4749081..4765205hg38UCSC Ensembl
chr12:4859247..4873371hg19UCSC Ensembl
Innerchr12:4859747..4872871hg19UCSC Ensembl
Outerchr12:4858247..4874371hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3814125
hg1914125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628369
Supporting Variants
SamplesHG01486
Known GenesGALNT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14343687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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