A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12906233



Internal ID2908049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99027640..99036461hg38UCSC Ensembl
chr7:98625263..98634084hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388822
hg198822
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614267
Supporting Variants
SamplesHG02971
Known GenesSMURF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12906233
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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