A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12779144



Internal ID4251140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54100402..54145951hg38UCSC Ensembl
chr7:54168095..54213644hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3845550
hg1945550
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613208
Supporting Variants
SamplesHG03823
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12779144
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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