A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621811



Internal ID7008677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128621738..128623621hg38UCSC Ensembl
Innerchr9:128621738..128623621hg38UCSC Ensembl
Outerchr9:128621455..128623827hg38UCSC Ensembl
chr9:131384017..131385900hg19UCSC Ensembl
Innerchr9:131384017..131385900hg19UCSC Ensembl
Outerchr9:131383734..131386106hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381884
hg191884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13622836, essv13622834, essv13622835, essv13622832, essv13622833
SamplesNA19446, NA19035, NA19434, NA19310, NA19430
Known GenesSPTAN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621811
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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