A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620542



Internal ID6660724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68339428..68382871hg38UCSC Ensembl
chr9:70954344..70997787hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3843444
hg1943444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13504899, essv13504900
SamplesNA18530, NA19317
Known GenesPGM5, PGM5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620542
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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