A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302485



Internal ID15149432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50155808..50155869hg38UCSC Ensembl
Innerchr7:50155838..50155838hg38UCSC Ensembl
Outerchr7:50155708..50155969hg38UCSC Ensembl
chr7:50195404..50195465hg19UCSC Ensembl
Innerchr7:50195434..50195434hg19UCSC Ensembl
Outerchr7:50195304..50195565hg19UCSC Ensembl
chr7:50165950..50166011hg18UCSC Ensembl
Innerchr7:50165980..50165980hg18UCSC Ensembl
Outerchr7:50165850..50166111hg18UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731377
SamplesNA12878
Known GenesC7orf72
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302485
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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