A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445873



Internal ID14946137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100353277..100353296hg38UCSC Ensembl
Innerchr7:100353273..100353300hg38UCSC Ensembl
Outerchr7:100353254..100353319hg38UCSC Ensembl
chr7:99950900..99950919hg19UCSC Ensembl
Innerchr7:99950896..99950923hg19UCSC Ensembl
Outerchr7:99950877..99950942hg19UCSC Ensembl
chr7:99788836..99788855hg18UCSC Ensembl
Innerchr7:99788859..99788832hg18UCSC Ensembl
Outerchr7:99788813..99788878hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9635336
SamplesNA12874
Known GenesPVRIG2P, STAG3L5P-PVRIG2P-PILRB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445873
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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