A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13518583



Internal ID632414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:73148689..73332974hg38UCSC Ensembl
chr9:75763605..75947890hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38184286
hg19184286
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620661
Supporting Variants
SamplesHG00276
Known GenesANXA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13518583
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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