A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1175e214



Internal ID18981350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31170668..31187842hg38UCSC Ensembl
chr6:31138445..31155619hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3817175
hg1917175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3608533, esv3608538, esv3608539
SamplesHG02943, HG01915, HG01880
Known GenesPOU5F1, PSORS1C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1175e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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