A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671525



Internal ID5295921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4828936..4874508hg38UCSC Ensembl
Innerchr7:4828936..4874508hg38UCSC Ensembl
Outerchr7:4828436..4875008hg38UCSC Ensembl
chr7:4868567..4914139hg19UCSC Ensembl
Innerchr7:4868567..4914139hg19UCSC Ensembl
Outerchr7:4868067..4914639hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3845573
hg1945573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611950
Supporting Variants
SamplesNA18748
Known GenesPAPOLB, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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