A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620570



Internal ID7007440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70064971..70102403hg38UCSC Ensembl
chr9:72679887..72717319hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3837433
hg1937433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13511574
SamplesHG02597
Known GenesMAMDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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