A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630104



Internal ID5093132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128963590..128968413hg38UCSC Ensembl
Innerchr12:128963590..128968413hg38UCSC Ensembl
Outerchr12:128963316..128968726hg38UCSC Ensembl
chr12:129448135..129452958hg19UCSC Ensembl
Innerchr12:129448135..129452958hg19UCSC Ensembl
Outerchr12:129447861..129453271hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384824
hg194824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631157
Supporting Variants
SamplesNA18549
Known GenesGLT1D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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