A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628369



Internal ID6668512
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv246e214
Supporting Variantsessv14343686, essv14343687
SamplesHG00766, HG01486
Known GenesGALNT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628369
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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