A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912114



Internal ID2913930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102794927..102853299hg38UCSC Ensembl
chr7:102435374..102493746hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3858373
hg1958373
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614358
Supporting Variants
SamplesHG03629
Known GenesFAM185A, FBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912114
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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