A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12933455



Internal ID3096620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115498234..115507274hg38UCSC Ensembl
Innerchr7:115498384..115507124hg38UCSC Ensembl
Outerchr7:115498084..115507424hg38UCSC Ensembl
chr7:115138288..115147328hg19UCSC Ensembl
Innerchr7:115138438..115147178hg19UCSC Ensembl
Outerchr7:115138138..115147478hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg389041
hg199041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614673
Supporting Variants
SamplesHG02722
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12933455
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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