A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631157



Internal ID7017969
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14630103, essv14630104, essv14630105
SamplesHG02073, NA18570, NA18549
Known GenesGLT1D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631157
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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