A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628448



Internal ID7015272
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14349940, essv14349943, essv14349939, essv14349936, essv14349938, essv14349941, essv14349942, essv14349937
SamplesHG01970, HG03754, NA19901, HG00260, HG01362, HG00473, HG01862, HG02373
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628448
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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