A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302935



Internal ID15149883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121464637..121465549hg38UCSC Ensembl
Innerchr9:121464737..121465449hg38UCSC Ensembl
Outerchr9:121464537..121465649hg38UCSC Ensembl
chr9:124226915..124227827hg19UCSC Ensembl
Innerchr9:124227015..124227727hg19UCSC Ensembl
Outerchr9:124226815..124227927hg19UCSC Ensembl
chr9:123266736..123267648hg18UCSC Ensembl
Innerchr9:123266836..123267548hg18UCSC Ensembl
Outerchr9:123266636..123267748hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38913
hg19913
hg18913
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4522e59
Supporting Variantsessv7735226, essv7737992, essv7732161, essv7737873, essv7735708, essv7736347, essv7736883, essv7734314, essv7736424, essv7739175, essv7733588, essv7734389, essv7733805, essv7733732, essv7731997, essv7732824, essv7735214, essv7737540, essv7734097, essv7734968, essv7735839, essv7733517
SamplesNA10851, NA12751, NA18504, NA18870, NA07346, NA12891, NA11992, NA12761, NA12044, NA12003, NA12878, NA18516, NA19114, NA11919, NA12249, NA12144, NA12716, NA07051, NA06986, NA12749, NA12006, NA07000
Known GenesGGTA1P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302935
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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