A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613746



Internal ID6653954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75965095..76003876hg38UCSC Ensembl
Innerchr7:75965095..76003876hg38UCSC Ensembl
Outerchr7:75964595..76004376hg38UCSC Ensembl
chr7:75594413..75633194hg19UCSC Ensembl
Innerchr7:75594413..75633194hg19UCSC Ensembl
Outerchr7:75593913..75633694hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3838782
hg1938782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848274, essv12848275
SamplesNA19917, HG02219
Known GenesPOR, STYXL1, TMEM120A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613746
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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