A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608533



Internal ID6995461
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 Variantsdgv1175e214
Supporting Variantsessv12254281
SamplesHG02943
Known GenesPOU5F1, PSORS1C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608533
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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