A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1180e214



Internal ID22757074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45029292..45074837hg38UCSC Ensembl
chr6:44997029..45042574hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3845546
hg1945546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3608849, esv3608850
SamplesHG00136
Known GenesSUPT3H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1180e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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