A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621517



Internal ID7008386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112616823..112830602hg38UCSC Ensembl
Innerchr9:112616973..112830452hg38UCSC Ensembl
Outerchr9:112616673..112830752hg38UCSC Ensembl
chr9:115379103..115592882hg19UCSC Ensembl
Innerchr9:115379253..115592732hg19UCSC Ensembl
Outerchr9:115378953..115593032hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38213780
hg19213780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13606235, essv13606232, essv13606239, essv13606233, essv13606228, essv13606236, essv13606227, essv13606238, essv13606229, essv13606231, essv13606234, essv13606230, essv13606237
SamplesNA19204, HG01602, HG03297, HG02541, HG03189, NA19209, NA18867, HG03169, NA19210, NA19391, HG01882, NA20126, NA18865
Known GenesINIP, KIAA1958, SNX30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621517
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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