A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12931441



Internal ID4617311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113326144..113371517hg38UCSC Ensembl
Innerchr7:113326144..113371517hg38UCSC Ensembl
Outerchr7:113325644..113372017hg38UCSC Ensembl
chr7:112966199..113011572hg19UCSC Ensembl
Innerchr7:112966199..113011572hg19UCSC Ensembl
Outerchr7:112965699..113012072hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3845374
hg1945374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614646
Supporting Variants
SamplesHG04153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12931441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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