A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14349941



Internal ID2676777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7880733..7960581hg38UCSC Ensembl
Innerchr12:7881233..7960081hg38UCSC Ensembl
Outerchr12:7879733..7961581hg38UCSC Ensembl
chr12:8033329..8113177hg19UCSC Ensembl
Innerchr12:8033829..8112677hg19UCSC Ensembl
Outerchr12:8032329..8114177hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3879849
hg1979849
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628448
Supporting Variants
SamplesHG02373
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14349941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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