A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671337



Internal ID4002313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4312826..4499971hg38UCSC Ensembl
chr7:4352457..4539602hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38187146
hg19187146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611916
Supporting Variants
SamplesHG03652
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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