A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614148



Internal ID7001043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92691707..92723179hg38UCSC Ensembl
chr7:92321021..92352493hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3831473
hg1931473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12890679
SamplesNA19043
Known GenesCDK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614148
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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